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GENE - TERM ANNOTATION REPORT

RGD ID: 1321087
Species: Mus musculus
RGD Object: Gene
Symbol: Mccc2
Name: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
Acc ID: DOID:0080580
Term: 3-Methylcrotonyl-CoA carboxylase 2 deficiency
Definition: A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency "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)
Mccc2 ISOMCCC2 (Homo sapiens)7240710OMIM  
Mccc2 ISOMCCC2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Mccc2 ISOMCCC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2PMID:11170888 PMID:11181649 PMID:11406611 PMID:1293382 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17908719 PMID:17968484 PMID:19706617 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:22658692 PMID:24516753 PMID:25356967 PMID:25381946 PMID:25382614 PMID:25640679 PMID:25741868 PMID:25741914 PMID:26566957 PMID:26589311 PMID:26764160 PMID:27033733 PMID:27601257 PMID:27959697 PMID:28018443 PMID:28492532 PMID:29247206 PMID:29767664 PMID:30510438 PMID:30626930 PMID:31130284 PMID:31730530 PMID:31847883 PMID:31901042 PMID:32778825 PMID:33423264 PMID:34440436 PMID:34899149 PMID:35281663 PMID:36822454 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913
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