Gene table of AMACR : alpha-methylacyl-CoA racemase

Gene-disease associations table

Disease IDDisease nameSource of annotation with AMACROMIM linkNumber of associated genesgenes
PS607765BILE ACID SYNTHESIS DEFECT, CONGENITALClinVar, OMIM, HUMSAVAR link to OMIM 5AMACR, AKR1D1, CYP7B1, HSD3B7, ABCD3
614307ALPHA-METHYLACYL-COA RACEMASE DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1AMACR

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Annotation of the gene AMACR

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Primary bile acid biosynthesishsa001208.68
Peroxisomehsa041466.34
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Bile acid and bile salt metabolismR-HSA-1940687.85
Beta-oxidation of pristanoyl-CoAR-HSA-3898879.98
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolR-HSA-1933688.4
Peroxisomal lipid metabolismR-HSA-3909188.59
Synthesis of bile acids and bile salts via 24-hydroxycholesterolR-HSA-1937759.18
MetabolismR-HSA-14307282.34
Synthesis of bile acids and bile saltsR-HSA-1921058.23
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Associated GO terms for Molecular function
GO termGO IDGO IC
GO:00081119.74
racemase and epimerase activityGO:00168546.97
isomerase activityGO:00168534.62
catalytic activityGO:00038241.05
bindingGO:00054880.18
protein bindingGO:00055150.46
receptor bindingGO:00051022.43