MCID: MTC021
MIFTS: 24

Mitochondrial Complex V Deficiency

Categories: Rare diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency

MalaCards integrated aliases for Mitochondrial Complex V Deficiency:

Name: Mitochondrial Complex V Deficiency 49 24
Atp Synthase Deficiency 24 36
Complex V Deficiency 69 28
Complex 5 Mitochondrial Respiratory Chain Deficiency 49

Classifications:



External Ids:

KEGG 36 H01369
UMLS 69 C0342779

Summaries for Mitochondrial Complex V Deficiency

Genetics Home Reference : 24 Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. Complex V is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex V is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.

MalaCards based summary : Mitochondrial Complex V Deficiency, also known as atp synthase deficiency, is related to isolated atp synthase deficiency and mitochondrial complex v deficiency, nuclear type 3. An important gene associated with Mitochondrial Complex V Deficiency is ATPAF2 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 2), and among its related pathways/superpathways are Oxidative phosphorylation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

Related Diseases for Mitochondrial Complex V Deficiency

Graphical network of the top 20 diseases related to Mitochondrial Complex V Deficiency:



Diseases related to Mitochondrial Complex V Deficiency

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency

Drugs & Therapeutics for Mitochondrial Complex V Deficiency

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency

Genetic Tests for Mitochondrial Complex V Deficiency

Genetic tests related to Mitochondrial Complex V Deficiency:

# Genetic test Affiliating Genes
1 Complex V Deficiency 28

Anatomical Context for Mitochondrial Complex V Deficiency

Publications for Mitochondrial Complex V Deficiency

Articles related to Mitochondrial Complex V Deficiency:

# Title Authors Year
1
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. ( 26550569 )
2015
2
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. ( 22986587 )
2012
3
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. ( 20566710 )
2010
4
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. ( 18953340 )
2008
5
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. ( 1287564 )
1992

Variations for Mitochondrial Complex V Deficiency

Copy number variations for Mitochondrial Complex V Deficiency from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 80936 13 99432319 99437020 Microdeletion ZIC2 ATP synthase deficiency

Expression for Mitochondrial Complex V Deficiency

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency.

Pathways for Mitochondrial Complex V Deficiency

Pathways related to Mitochondrial Complex V Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Mitochondrial Complex V Deficiency

Cellular components related to Mitochondrial Complex V Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.72 ATP5F1A ATP5F1E ATPAF2 MT-ATP8 TMEM70
2 mitochondrial inner membrane GO:0005743 9.35 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8 TMEM70
3 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.26 MT-ATP6 MT-ATP8
4 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.16 ATP5F1A ATP5F1E
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

Biological processes related to Mitochondrial Complex V Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.73 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
2 ion transport GO:0006811 9.67 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
3 proton transport GO:0015992 9.62 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
4 cristae formation GO:0042407 9.56 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
5 ATP biosynthetic process GO:0006754 9.46 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
6 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.4 ATP5F1A ATP5F1E
7 ATP synthesis coupled proton transport GO:0015986 9.26 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
8 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

Molecular functions related to Mitochondrial Complex V Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transporter activity GO:0015078 9.26 MT-ATP6 MT-ATP8
2 ATPase activity GO:0016887 9.26 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
3 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.16 ATP5F1A ATP5F1E
4 transmembrane transporter activity GO:0022857 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

Sources for Mitochondrial Complex V Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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