AMACR
entrez
23600
canonical
uniprot
Q9UHK6
canonical
ensembl
ENSG00000242110
resolver
ensp
ENSP00000334424
resolver
ensp
ENSP00000371504
resolver
ensp
ENSP00000371517
resolver
genesymbol
AMACR
resolver
hgnc
HGNC:451
resolver
uniprot
A5YM47
resolver
uniprot
B8Y916
resolver
uniprot
B8Y918
resolver
uniprot
F8W9N1
resolver
uniprot
O43673
resolver
uniprot
Q3KT79
resolver
uniprot
Q96GH1
resolver
uniprot
Q9Y3Q1
resolver
uniprot_entry
AMACR_HUMAN
resolver
uniprot_sec
A5YM47
resolver
uniprot_sec
B8Y916
resolver
uniprot_sec
B8Y918
resolver
uniprot_sec
F8W9N1
resolver
uniprot_sec
O43673
resolver
uniprot_sec
Q3KT79
resolver
uniprot_sec
Q96GH1
resolver
uniprot_sec
Q9Y3Q1
resolver
amino_acid_sequence
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVIDANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTFEEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFSREEIYQLNSDKIIESNKVKASL
uniprot
proteins
disease_involvement
DISEASE: Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]: 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. {ECO:0000269|PubMed:10655068}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]: A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency. {ECO:0000269|PubMed:10655068, ECO:0000269|PubMed:12512044}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.1.99.4
uniprot
proteins
function
FUNCTION: Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:10655068, PubMed:11060359, PubMed:11893780, PubMed:7649182). 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 (PubMed:10655068, PubMed:11060359, PubMed:7649182). {ECO:0000269|PubMed:10655068, ECO:0000269|PubMed:11060359, ECO:0000269|PubMed:11893780, ECO:0000269|PubMed:7649182}.
uniprot
proteins
mass_dalton
42387
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; bile acid biosynthesis.; PATHWAY: Lipid metabolism; fatty acid metabolism.
uniprot
proteins
protein_family
CoA-transferase III family
uniprot
proteins
pubmed
10655068
uniprot
proteins
pubmed
11060344
uniprot
proteins
pubmed
11060359
uniprot
proteins
pubmed
11893780
uniprot
proteins
pubmed
12512044
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15880524
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7649182
uniprot
proteins
sequence_length
382
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:11060344, ECO:0000269|PubMed:11060359, ECO:0000269|PubMed:7649182}. Mitochondrion {ECO:0000269|PubMed:11060344, ECO:0000269|PubMed:11060359, ECO:0000269|PubMed:7649182}.
uniprot
proteins