Gene: MCCC2

Alternate names for this Gene: MCCB

Gene Summary: This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 5

Location in Chromosome : 5q13.2

Description of this Gene: methylcrotonoyl-CoA carboxylase 2

Type of Gene: protein-coding

rs119103220 in MCCC2 gene and 3-methylcrotonyl CoA carboxylase 2 deficiency PMID 22150417 2012 Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 11170888 2001 The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

PMID 25382614 2015 Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.

PMID 16010683 2005 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

PMID 17968484 2007 Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 22264772 2012 A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 22642865 2012 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

PMID 27601257 2016 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

PMID 11406611 2001 Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

PMID 21071250 2011 Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

PMID 11181649 2001 The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

PMID 22030835 2012 Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

PMID 28018443 2016 Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.

PMID 17908719 2007 Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 25356967 2015 Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

rs277979 in MCCC2 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.