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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:0050710
Term: 3-methylcrotonyl-CoA carboxylase deficiency
Definition: An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency "DO" "DO", http://omim.org/entry/210200 "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.
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