AMACR geenin koodaama rasemaasi vaikuttaa aktivoituihin C27 sappihappoihin ,niiden välituotteeseen, arylpropionihappoon, ibuprofeeniin, eikä vain aktivoituun pristanyyliin !

 Olisikohan Refsum-dieetin periaatteista  tässäkin   entsyymin vaikutusalan haarassa jotin merkitystä etuja? Metabolisen taakan helpottamista?

Functional Descriptions for AMACR proteins

Uniprot Function
for Q9UHK6

• Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters
• Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs. 3 Publications

GenAtlas Summary
for AMACR

• alpha-methylacyl-CoA racemase,expressed in liver,peroxisomal,converting pristanoyl-CoA and C27 beta acyl-CoA to their (5) stereoisomers,essential step for the formation of cholic acid by the normal peroxisomal pathway

GO Molecular Functions for AMACR

AMACR alpha-methylacyl-CoA racemase [ Homo sapiens (human) ]

Gene ID: 23600, updated on 13-Oct-2026

Download Datasets

Summary

Official Symbol

AMACRprovided by HGNC

Official Full Name

alpha-methylacyl-CoA racemaseprovided by HGNC

Primary source

HGNC:HGNC:451

See related

Ensembl:ENSG00000242110 MIM:604489; AllianceGenome:HGNC:451

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

RM; RACE; CBAS4; P504S; AMACRD

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]

Expression

Broad expression in kidney (RPKM 38.3), liver (RPKM 31.1) and 22 other tissues See more

Orthologs

all

Try the new Gene page