SCA28
MCID: SPN308
MIFTS: 43

Spinocerebellar Ataxia 28 (SCA28)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 28

MalaCards integrated aliases for Spinocerebellar Ataxia 28:

Name: Spinocerebellar Ataxia 28 56 52 73 29 13 6 71
Spinocerebellar Ataxia Type 28 12 24 52 58 15
Sca28 56 24 52 58 73
Ataxia, Spinocerebellar, Type 28 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 28
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Miscellaneous:
slow progression
mean age at onset 30.7 years (range 6 to 60 years)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 28:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


GeneReviews:

24
Penetrance From the studies of sca28 published to date, disease penetrance appears to be complete.

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050977
OMIM 56 610246
OMIM Phenotypic Series 56 PS164400
MeSH 43 D020754
MESH via Orphanet 44 C537205
ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 72 C1853249
Orphanet 58 ORPHA101109
MedGen 41 C1853249
UMLS 71 C1853249

Summaries for Spinocerebellar Ataxia 28

NIH Rare Diseases : 52 Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria ), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles that control eye movement (ophthalmoparesis), uncontrolled movement of the eye (nystagmus ) and drooping eyelid (ptosis ). The symptoms worsen very slowly over time. SCA28 is caused by changes in the AFG3L2 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA28, but treatments are available to help manage symptoms.

MalaCards based summary : Spinocerebellar Ataxia 28, also known as spinocerebellar ataxia type 28, is related to spinocerebellar ataxia 15 and spastic paraplegia 7, autosomal recessive, and has symptoms including gait ataxia and muscle spasticity. An important gene associated with Spinocerebellar Ataxia 28 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and gait ataxia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has material basis in mutation in the AFG3L2 gene.

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 28: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.

More information from OMIM: 610246 PS164400
GeneReviews: NBK54582

Related Diseases for Spinocerebellar Ataxia 28

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 15 29.9 TTBK2 KCNC3
2 spastic paraplegia 7, autosomal recessive 29.9 YME1L1 SPG7 NOA1 AFG3L2
3 spinocerebellar ataxia 13 29.8 TTBK2 KCNC3
4 hereditary ataxia 29.6 TTBK2 SPG7 KCNC3 AFG3L2
5 aceruloplasminemia 29.6 TTBK2 KCNC3 AFG3L2
6 autosomal dominant cerebellar ataxia 29.1 TTBK2 SPG7 KCNC3 CRYAA AFG3L2
7 spastic ataxia 10.3 SPG7 AFG3L2
8 optic atrophy 1 10.3
9 ptosis 10.3
10 kearns-sayre syndrome 10.2
11 spastic paraplegia 13, autosomal dominant 10.2 SPG7 CRYAA
12 dentatorubral-pallidoluysian atrophy 10.1
13 spastic ataxia 5, autosomal recessive 10.1
14 paraplegia 10.1
15 pathologic nystagmus 10.1
16 aspiration pneumonia 10.1
17 chronic progressive external ophthalmoplegia 10.1
18 hereditary spastic paraplegia 10.1
19 ataxia and polyneuropathy, adult-onset 10.1
20 spinocerebellar ataxia 11 10.1
21 spinocerebellar ataxia 14 10.1
22 spinocerebellar ataxia 27 10.1
23 spinocerebellar ataxia 18 10.0 TTBK2 AFG3L2
24 perrault syndrome 10.0 SPG7 CLPX AFG3L2
25 marinesco-sjogren syndrome 10.0 KCNC3 CRYAA
26 spastic ataxia 5 9.9 YME1L1 SPG7 MAIP1 AFG3L2
27 cranial nerve disease 9.8 SPG7 CRYAA
28 spastic paraplegia 25, autosomal recessive 9.8 TTBK2 KCNC3
29 optic nerve disease 9.8 YME1L1 SPG7 OMA1 CRYAA
30 3-methylglutaconic aciduria, type v 9.7 TIMM17A CRYAA
31 spinocerebellar ataxia 21 9.7 TTBK2 KCNC3 AFG3L2
32 cerebellar disease 9.7 TTBK2 KCNC3 AFG3L2
33 3-methylglutaconic aciduria, type iii 9.7 SPG7 OMA1 KCNC3 AFG3L2
34 sengers syndrome 9.7 TIMM17A CRYAA

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 28:



Diseases related to Spinocerebellar Ataxia 28

Symptoms & Phenotypes for Spinocerebellar Ataxia 28

Human phenotypes related to Spinocerebellar Ataxia 28:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
4 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
5 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
9 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
10 dystonia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001332
11 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
12 kinetic tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0030186
13 spasticity 58 31 very rare (1%) Very rare (<4-1%) HP:0001257
14 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
15 memory impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002354
16 rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0002063
17 head tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002346
18 limb dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002451
19 behavioral abnormality 58 Very rare (<4-1%)
20 hypertonia 31 HP:0001276
21 cognitive impairment 58 Very rare (<4-1%)
22 cerebellar atrophy 31 HP:0001272
23 gaze-evoked nystagmus 31 HP:0000640
24 dysmetric saccades 31 HP:0000641

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
dysarthria
gait ataxia
limb ataxia
cerebellar atrophy
more
Head And Neck Eyes:
gaze-evoked nystagmus
dysmetric saccades
eye movement abnormalities
smooth pursuit abnormalities
slow saccades (with longer disease duration)
more

Clinical features from OMIM:

610246

UMLS symptoms related to Spinocerebellar Ataxia 28:


gait ataxia, muscle spasticity

Drugs & Therapeutics for Spinocerebellar Ataxia 28

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 28

Genetic Tests for Spinocerebellar Ataxia 28

Genetic tests related to Spinocerebellar Ataxia 28:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 28 29 AFG3L2

Anatomical Context for Spinocerebellar Ataxia 28

MalaCards organs/tissues related to Spinocerebellar Ataxia 28:

40
Eye, Cerebellum, Spinal Cord, Brain, Liver, Skin

Publications for Spinocerebellar Ataxia 28

Articles related to Spinocerebellar Ataxia 28:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 61 24 56 6
20725928 2010
2
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. 61 24 56 6
20208537 2010
3
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. 61 56 6
16251216 2006
4
Spinocerebellar Ataxia Type 28 61 6
21595125 2011
5
Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation. 61 24
28660440 2017
6
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. 61 24
26868664 2017
7
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. 61 24
26677414 2015
8
A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia. 61 24
24272953 2014
9
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. 61 24
24814845 2014
10
A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28. 61 24
24293060 2014
11
Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds. 61 24
22563911 2012
12
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. 61 24
22022284 2011
13
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. 61 24
20354562 2010
14
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
15
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. 61 24
18769991 2008
16
Hereditary Ataxia Overview 6
20301317 1998
17
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. 24
28444220 2017
18
Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients. 24
27965395 2017
19
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. 24
28362824 2017
20
Analysis of protein-coding genetic variation in 60,706 humans. 24
27535533 2016
21
Exome sequencing in undiagnosed inherited and sporadic ataxias. 24
25497598 2015
22
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 24
25401298 2015
23
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 24
25133958 2014
24
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. 24
24108619 2014
25
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. 24
24030952 2013
26
Autocatalytic processing of m-AAA protease subunits in mitochondria. 24
19656850 2009
27
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. 24
16239145 2005
28
Cellular functions, mechanism of action, and regulation of FtsH protease. 24
15910274 2005
29
Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface. 24
10882099 2000
30
Identification and characterization of AFG3L2, a novel paraplegin-related gene. 24
10395799 1999
31
The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease. 24
9707443 1998
32
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 24
9635427 1998
33
The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria. 24
8681382 1996
34
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. 61
30910913 2019
35
Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration. 61
30989755 2019
36
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2. 61
31111429 2019
37
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. 61
30389403 2019
38
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. 61
30252181 2018
39
m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration. 61
29451229 2018
40
The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. 61
27642048 2016
41
Movement disorders in mitochondrial diseases. 61
27476418 2016
42
MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases. 61
27196319 2016
43
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. 61
25485680 2015
44
Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation. 61
24681487 2014
45
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 61
23777634 2013
46
[The genetics of spinocerebellar ataxias]. 61
23338152 2013
47
Spinocerebellar ataxia type 28. 61
21827917 2012
48
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 61
22035318 2011
49
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. 61
21619691 2011
50
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. 61
20723845 2010

Variations for Spinocerebellar Ataxia 28

ClinVar genetic disease variations for Spinocerebellar Ataxia 28:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AFG3L2 NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys)SNV Pathogenic 5470 rs151344520 18:12337444-12337444 18:12337445-12337445
2 AFG3L2 NM_006796.2(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)indel Pathogenic 5471 rs151344519 18:12337493-12337494 18:12337494-12337495
3 AFG3L2 NM_006796.2(AFG3L2):c.2081C>A (p.Ala694Glu)SNV Pathogenic 5472 rs151344521 18:12337434-12337434 18:12337435-12337435
4 AFG3L2 NM_006796.2(AFG3L2):c.1997T>G (p.Met666Arg)SNV Pathogenic 30424 rs151344515 18:12337518-12337518 18:12337519-12337519
5 AFG3L2 NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg)SNV Pathogenic 30425 rs151344517 18:12337504-12337504 18:12337505-12337505
6 AFG3L2 NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile)SNV Pathogenic 38387 rs151344513 18:12340219-12340219 18:12340220-12340220
7 AFG3L2 NM_006796.2(AFG3L2):c.1997T>C (p.Met666Thr)SNV Pathogenic 38389 rs151344515 18:12337518-12337518 18:12337519-12337519
8 AFG3L2 NM_006796.2(AFG3L2):c.2012G>A (p.Gly671Glu)SNV Pathogenic 38392 rs151344518 18:12337503-12337503 18:12337504-12337504
9 AFG3L2 NM_006796.2(AFG3L2):c.2098G>A (p.Glu700Lys)SNV Pathogenic 38393 rs151344522 18:12337417-12337417 18:12337418-12337418
10 AFG3L2 NM_006796.2(AFG3L2):c.1295A>C (p.Asn432Thr)SNV Pathogenic 5474 rs151344512 18:12353027-12353027 18:12353028-12353028
11 AFG3L2 NM_006796.2(AFG3L2):c.1164+1G>ASNV Pathogenic 638488 18:12356692-12356692 18:12356693-12356693
12 AFG3L2 NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)SNV Likely pathogenic 807537 18:12337450-12337450 18:12337451-12337451
13 AFG3L2 NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)SNV Likely pathogenic 807538 18:12356738-12356738 18:12356739-12356739
14 AFG3L2 NM_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln)SNV Likely pathogenic 5473 rs151344523 18:12337410-12337410 18:12337411-12337411
15 AFG3L2 NM_006796.2(AFG3L2):c.571G>A (p.Val191Ile)SNV Uncertain significance 548568 rs1373473541 18:12363837-12363837 18:12363838-12363838
16 AFG3L2 NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val)SNV Uncertain significance 30423 rs151344514 18:12337519-12337519 18:12337520-12337520
17 AFG3L2 NM_006796.2(AFG3L2):c.1397C>T (p.Pro466Leu)SNV Uncertain significance 214053 rs375098002 18:12351334-12351334 18:12351335-12351335

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 28:

73 (show all 13)
# Symbol AA change Variation ID SNP ID
1 AFG3L2 p.Asn432Thr VAR_063544 rs151344512
2 AFG3L2 p.Glu691Lys VAR_063545 rs151344520
3 AFG3L2 p.Ala694Glu VAR_063546 rs151344521
4 AFG3L2 p.Arg702Gln VAR_063547 rs151344523
5 AFG3L2 p.Thr654Ile VAR_064402 rs151344513
6 AFG3L2 p.Met666Arg VAR_064403 rs151344515
7 AFG3L2 p.Met666Thr VAR_064404 rs151344515
8 AFG3L2 p.Met666Val VAR_064405 rs151344514
9 AFG3L2 p.Gly671Glu VAR_064406 rs151344518
10 AFG3L2 p.Gly671Arg VAR_064407 rs151344517
11 AFG3L2 p.Glu700Lys VAR_064408 rs151344522
12 AFG3L2 p.Tyr689His VAR_075198
13 AFG3L2 p.Tyr689Asn VAR_075199

Expression for Spinocerebellar Ataxia 28

Search GEO for disease gene expression data for Spinocerebellar Ataxia 28.

Pathways for Spinocerebellar Ataxia 28

GO Terms for Spinocerebellar Ataxia 28

Cellular components related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.61 YME1L1 TIMM17A SPG7 OMA1 NOA1 MRPL45
2 mitochondrial inner membrane GO:0005743 9.28 YME1L1 TIMM17A SPG7 OMA1 NOA1 MRPL45
3 m-AAA complex GO:0005745 9.16 SPG7 AFG3L2

Biological processes related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.73 YME1L1 SPG7 OMA1 AFG3L2
2 mitochondrion organization GO:0007005 9.46 YME1L1 SPG7 OMA1 AFG3L2
3 cristae formation GO:0042407 9.4 OMA1 AFG3L2
4 mitochondrial calcium ion homeostasis GO:0051560 9.37 MAIP1 AFG3L2
5 protein quality control for misfolded or incompletely synthesized proteins GO:0006515 9.32 YME1L1 OMA1
6 calcium import into the mitochondrion GO:0036444 9.26 MAIP1 AFG3L2
7 mitochondrial protein processing GO:0034982 9.13 YME1L1 OMA1 AFG3L2
8 mitochondrial calcium ion transmembrane transport GO:0006851 8.92 YME1L1 SPG7 MAIP1 AFG3L2

Molecular functions related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.62 YME1L1 SPG7 OMA1 AFG3L2
2 metallopeptidase activity GO:0008237 9.46 YME1L1 SPG7 OMA1 AFG3L2
3 ATP-dependent peptidase activity GO:0004176 9.26 YME1L1 CLPX
4 unfolded protein binding GO:0051082 9.26 SPG7 CRYAA CLPX AFG3L2
5 metalloendopeptidase activity GO:0004222 8.92 YME1L1 SPG7 OMA1 AFG3L2

Sources for Spinocerebellar Ataxia 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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