AMACRD
MCID: ALP012
MIFTS: 45

Alpha-Methylacyl-Coa Racemase Deficiency (AMACRD) malady

Categories: Genetic diseases (common), Metabolic diseases

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

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Aliases & Descriptions for Alpha-Methylacyl-Coa Racemase Deficiency:

Name: Alpha-Methylacyl-Coa Racemase Deficiency 52 11 24 25 70 27 12 13 68
Amacr Deficiency 11 24 25 70
 
Alpha-Methylacyl-Coa Racemase 12
Amacrd 70

Characteristics:

HPO:

64
alpha-methylacyl-coa racemase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 614307
Disease Ontology11 DOID:0060602
MeSH39 D018901

Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

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Genetics Home Reference:25 Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.

MalaCards based summary: Alpha-Methylacyl-Coa Racemase Deficiency, also known as amacr deficiency, is related to bile acid synthesis defect, congenital, 4 and oculocutaneous albinism, and has symptoms including muscle spasticity, seizures and visual impairment. An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (Alpha-Methylacyl-CoA Racemase), and among its related pathways are PPAR Alpha Pathway and Fatty acid elongation. Affiliated tissues include brain, retina and eye, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Disease Ontology:11 A peroxisomal disease that has material basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism.

OMIM:52 AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable... (614307) more...

UniProtKB/Swiss-Prot:70 Alpha-methylacyl-CoA racemase deficiency: A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.

Related Diseases for Alpha-Methylacyl-Coa Racemase Deficiency

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Graphical network of diseases related to Alpha-Methylacyl-Coa Racemase Deficiency:



Diseases related to alpha-methylacyl-coa racemase deficiency

Symptoms & Phenotypes for Alpha-Methylacyl-Coa Racemase Deficiency

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Symptoms by clinical synopsis from OMIM:

614307

Clinical features from OMIM:

614307

Human phenotypes related to Alpha-Methylacyl-Coa Racemase Deficiency:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 pigmentary retinopathy64 HP:0000580
3 depression64 HP:0000716
4 hypergonadotropic hypogonadism64 HP:0000815
5 ataxia64 HP:0001251
6 spasticity64 HP:0001257
7 tremor64 HP:0001337
8 migraine64 HP:0002076
9 status epilepticus64 HP:0002133
10 sensorimotor neuropathy64 HP:0007141

UMLS symptoms related to Alpha-Methylacyl-Coa Racemase Deficiency:


muscle spasticity, seizures

MGI Mouse Phenotypes related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2ACOX1, AMACR, HSD17B4, PHYH, SCP2
2MP:00053767.2ACAA1, ACOX1, AMACR, CYP46A1, HSD17B4, PHYH

Drugs & Therapeutics for Alpha-Methylacyl-Coa Racemase Deficiency

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Drugs for Alpha-Methylacyl-Coa Racemase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Celecoxibapproved, investigationalPhase 2444169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
2
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
3
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
4
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
5
Busulfanapproved, investigationalPhase 254555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
6
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
7
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
8
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
9Thioctic AcidPhase 2118
10TocopherolsPhase 2414
11TocotrienolsPhase 2410
12VitaminsPhase 25282
13Antimetabolites, AntineoplasticPhase 27361
14Alkylating AgentsPhase 24827
15AntimetabolitesPhase 212054
16N-monoacetylcystinePhase 2330
17Antineoplastic Agents, AlkylatingPhase 24603
18Immunosuppressive AgentsPhase 213086
19Antilymphocyte SerumPhase 2408
20Alpha-lipoic AcidNutraceuticalPhase 2118
21TocopherolNutraceuticalPhase 2414
22TocotrienolNutraceuticalPhase 2410

Interventional clinical trials:

idNameStatusNCT IDPhase
1MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2

Search NIH Clinical Center for Alpha-Methylacyl-Coa Racemase Deficiency

Genetic Tests for Alpha-Methylacyl-Coa Racemase Deficiency

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Genetic tests related to Alpha-Methylacyl-Coa Racemase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-Methylacyl-Coa Racemase Deficiency27 24 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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MalaCards organs/tissues related to Alpha-Methylacyl-Coa Racemase Deficiency:

36
Brain, Retina, Eye

Publications for Alpha-Methylacyl-Coa Racemase Deficiency

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Articles related to Alpha-Methylacyl-Coa Racemase Deficiency:

idTitleAuthorsYear
1
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (23286897)
2013
2
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. (22987308)
2012
3
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency. (20921516)
2010
4
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. (18032455)
2008
5
A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. (15016763)
2004
6
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. (15249642)
2004
7
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. (11160375)
2001

Variations for Alpha-Methylacyl-Coa Racemase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

70
id Symbol AA change Variation ID SNP ID
1AMACRp.Ser52ProVAR_010661rs121917814

Clinvar genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AMACRNM_ 014324.5(AMACR): c.154T> C (p.Ser52Pro)SNVPathogenicrs121917814GRCh37Chr 5, 34007971: 34007971

Expression for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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Search GEO for disease gene expression data for Alpha-Methylacyl-Coa Racemase Deficiency.

Pathways for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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Pathways related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6ACAA1, SCP2
2
Show member pathways
9.4ACAA1, ACOX1
39.0ACAA1, ACOX1, SCP2
4
Show member pathways
8.6ACAA1, ACOX1, HSD17B4, SCP2
5
Show member pathways
8.6ACAA1, ACOX1, HSD17B4, SCP2
6
Show member pathways
8.5AKR1D1, AMACR, CYP46A1, HSD17B4, SCP2
77.5ACAA1, ACOX1, AMACR, HACL1, HSD17B4, PHYH
8
Show member pathways
7.5ACAA1, ACOX1, AMACR, HACL1, HSD17B4, PHYH
9
Show member pathways
5.8ACAA1, ACOX1, AKR1D1, AMACR, CYP46A1, HACL1

GO Terms for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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Cellular components related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:000577810.0ACOX1, HSD17B4
2mitochondrionGO:00057398.8ACOX1, AMACR, HSD17B4, PHYH, SCP2
3intracellular membrane-bounded organelleGO:00432318.6ACAA1, ACOX1, AMACR, CYP46A1, HACL1, SCP2
4peroxisomal matrixGO:00057828.1ACAA1, ACOX1, AMACR, HACL1, HSD17B4, PHYH
5peroxisomeGO:00057777.5ACAA1, ACOX1, AMACR, HACL1, HSD17B4, PHYH

Biological processes related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1bile acid metabolic processGO:000820610.5ACAA1, AMACR
2androgen metabolic processGO:000820910.5AKR1D1, HSD17B4
3fatty acid alpha-oxidationGO:000156110.4HACL1, PHYH
4cholesterol catabolic processGO:000670710.3AKR1D1, CYP46A1
5fatty acid beta-oxidationGO:00066359.8ACAA1, ACOX1, HSD17B4
6alpha-linolenic acid metabolic processGO:00361099.4ACAA1, ACOX1, HSD17B4, SCP2
7bile acid biosynthetic processGO:00066999.2AKR1D1, AMACR, CYP46A1, HSD17B4, SCP2
8very long-chain fatty acid metabolic processGO:00000389.1ACAA1, ACOX1, HSD17B4
9fatty acid beta-oxidation using acyl-CoA oxidaseGO:00335409.1ACAA1, ACOX1, AMACR, HSD17B4, SCP2
10fatty acid metabolic processGO:00066318.7ACAA1, ACOX1, AMACR, HACL1, HSD17B4, PHYH
11lipid metabolic processGO:00066298.6ACAA1, ACOX1, AKR1D1, CYP46A1, HACL1, HSD17B4
12oxidation-reduction processGO:00551148.4ACOX1, AKR1D1, CYP46A1, HSD17B4, PHYH

Molecular functions related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cofactor bindingGO:004803710.3HACL1, PHYH
2transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167479.6ACAA1, SCP2
3catalytic activityGO:00038249.5ACAA1, HACL1, PHYH, SCP2
4receptor bindingGO:00051028.8ACOX1, AMACR, HACL1, HSD17B4, SCP2
5oxidoreductase activityGO:00164918.7ACOX1, AKR1D1, CYP46A1, HSD17B4, PHYH

Sources for Alpha-Methylacyl-Coa Racemase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet