MCCC2, methylcrotonoyl-CoA carboxylase 2, 64087

N. diseases: 50; N. variants: 50
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864399
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 7 		0.010 GeneticVariation disease BEFREE Two MCCB missense mutations and one splicing defect mutation leading to early MCC beta truncation were found in CGB patients. 11170888 2001