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GENE - TERM ANNOTATION REPORT

RGD ID: 14038679
Species: Sus scrofa
RGD Object: Gene
Symbol: AMACR
Name: alpha-methylacyl-CoA racemase
Acc ID: DOID:0060602
Term: alpha-methylacyl-CoA racemase deficiency
Definition: A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11861706 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
AMACR ISOAMACR (Homo sapiens)7240710OMIM  
AMACR ISOAMACR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiencyPMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:16199547 PMID:17576681 PMID:18032455 PMID:20558530 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:23286897 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 PMID:34440436 PMID:9536098
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