AMACR

GENE INFORMATION

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Gene name

AMACR (HGNC Symbol)

Synonyms

RACE

Description

alpha-methylacyl-CoA racemase (HGNC Symbol)

Entrez gene summary

This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]

Chromosome

5 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

33986283 - 34008220

Ensembl

ENSG00000242110 (version 73.37)

Entrez gene

23600

UniProt

Q9UHK6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHK6

Antibodypedia

AMACR antibodies
 

PROTEIN VIEW

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AMACR-001
 
AMACR-002
 
AMACR-003
 
AMACR-007
 
AMACR-008
 
AMACR-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMACR-001 ENSP00000334424
ENST00000335606
Q9UHK6
Show all »
Show » Show » 382 42.4 No 0
AMACR-002 ENSP00000371504
ENST00000382072
Q9UHK6
Show all »
Show » Show » 198 22.2 No 0
AMACR-003 ENSP00000424351
ENST00000502637
D6RB81
Show all »
Show » Show » 367 40.7 No 0
AMACR-007 ENSP00000427227
ENST00000506639
Q9UHK6
Show all »
Show » Show » 229 25.9 No 0
AMACR-008 ENSP00000371517
ENST00000382085
Q9UHK6
Show all »
Show » Show » 394 43.9 No 0
AMACR-201 ENSP00000403800
ENST00000441713
Q9UHK6
Show all »
Show » Show » 229 25.9 No 0