Tbio AMACR Alpha-methylacyl-CoA racemase

Protein Summary

Description

Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers. 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]

Uniprot Accession IDs

• Q9UHK6
• A5YM47
• B8Y916
• B8Y918
• F8W9N1
• O43673
• Q3KT79
• Q96GH1
• Q9Y3Q1

Gene Name

• AMACR

Ensembl ID

• ENST00000335606
• ENSP00000334424
• ENSG00000242110
• ENST00000382072
• ENSP00000371504
• ENST00000382085
• ENSP00000371517
• ENST00000506639
• ENSP00000427227

Symbol

• RM
• RACE
• CBAS4
• P504S
• AMACRD

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.86
transcription factor binding site profile	0.74
biological term	0.7
cellular component	0.68
disease perturbation	0.68

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 566.79   (req: < 5)

Gene RIFs: 98   (req: <= 3)

Antibodies: 827   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 566.79   (req: >= 5)

Gene RIFs: 98   (req: > 3)

Antibodies: 827   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0