Methylcrotonoyl Coenzyme A Carboxylase 1 (MCCC1)

MCCA; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; 3-methylcrotonyl-CoA carboxylase 1

SPN	T095
HGNC	6936
MGI	1919289
PubMed	23496138
RGD	1310615
UniProt	Q96RQ3

MCCC1 is the large 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.Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency). MCC1 deficiency is an autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3- hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.

Reference

"The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism."
Am. J. Hum. Genet. 68:334-346(2001) [PubMed] [Europe PMC] [Abstract]

"Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression."
Genomics 72:145-152(2001) [PubMed] [Europe PMC] [Abstract]

"Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency."
Hum. Mol. Genet. 10:1299-1306(2001) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency."
J. Clin. Invest. 107:495-504(2001) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase."
Biochem. Biophys. Res. Commun. 334:939-946(2005) [PubMed] [Europe PMC] [Abstract]

"Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC)."
Protein Expr. Purif. 53:421-427(2007) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Solution structure of RSGI RUH-072, an apo-biotinyl domain from human acetyl coenzyme A carboxylase."
Submitted (SEP-2007) to the PDB data bank

"3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening."
Hum. Mutat. 26:164-174(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency."
J. Hum. Genet. 52:1040-1043(2007) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria."
Mol. Genet. Metab. 102:218-221(2011) [PubMed] [Europe PMC] [Abstract]

"Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency."
Clin. Genet. 81:96-98(2012) [PubMed] [Europe PMC] [Abstract]

"A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency."
Mol. Genet. Metab. 105:602-606(2012) [PubMed] [Europe PMC] [Abstract]

"3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals."
Orphanet J. Rare Dis. 7:31-54(2012) [PubMed] [Europe PMC] [Abstract]