Gene : AMACR

Symbol :	AMACR
Name/description :	alpha-methylacyl-CoA racemase
Synonyms :	RACE, CBAS4
Organism :	Homo sapiens
Peroxisomal Localization :	GO: peroxisome K Kotti, et al.2000. J. Biol. Chem. GFP: No experiment found Mass Spectrometry: No experiment found PeroxisomeDB annotation
Protein family :	AMACR
Protein consensus sequence :	PTS1=0.027; start position=371; end position=382; MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVIDANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTFEEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFSREEIYQLNSDKIIESNKVKASL
Functional category(ies) :	Branched chain fatty acid oxidation Di- trihydroxycholestanoic acid oxidation/Bile acid synthesis Fatty acid oxidation
Disease(s) :	Adult-onset sensory motor neuropathy
Comparative genomics:	PTS prediction Blastp PsiBlast Alignment Phylogenetic tree [help] PhylomeDB Enzyme reaction data
Gene Info:	Gene Summary (NCBI) Genome Browser (UCSC) Chromosomal Localization (NCBI) ENSEMBL SNPs (NCBI) Intron/Exon (Ace View: NCBI) Gene Expression (UCSC) Protein Properties (UCSC) Conserved Domains (NCBI) Orthologue Prediction (NCBI)
Pubmed:	Yun Shen-Ong, et al.2003. Cancer Res. Expression profiling identifies a novel alpha-methylacyl-CoA racemase exon with fumarate hydratase homology. Tracy Setchell, et al.2003. Gastroenterology Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. S Ferdinandusse, et al.2002. Am. J. Hum. Genet. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. S Ferdinandusse, et al.2002. J. Lipid Res. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. S Ferdinandusse, et al.2001. J. Lipid Res. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. S Ferdinandusse, et al.2000. Nat. Genet. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. S Ferdinandusse, et al.2000. J. Lipid Res. Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.