Methylmalonyl Coenzyme A Mutase (MUT)

MCM; Methylmalonyl-CoA isomerase; Methylmalonyl-CoA mutase, mitochondrial

SPN	T093
HGNC	7526
MGI	97239
PubMed	17516582
RGD	1587662
UniProt	P22033
Wiki	MUT

Methylmalonyl Coenzyme A Mutase is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria.Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) . MMAM is an often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy.

Reference

"Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction."
Genomics 4:198-205(1989) [PubMed] [Europe PMC] [Abstract]

"Structure of the human methylmalonyl-CoA mutase (MUT) locus."
Genomics 8:710-716(1990) [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 DNA sequence and analysis of human chromosome 6."
Nature 425:805-811(2003) [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]

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

"Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning."
Am. J. Hum. Genet. 47:808-814(1990) [PubMed] [Europe PMC] [Abstract]

"Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation."
J. Clin. Invest. 87:203-207(1991) [PubMed] [Europe PMC] [Abstract]

"Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase."
Hum. Genet. 89:259-264(1992) [PubMed] [Europe PMC] [Abstract]

"Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria."
J. Clin. Invest. 89:385-391(1992) [PubMed] [Europe PMC] [Abstract]

"Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia."
Am. J. Hum. Genet. 55:42-50(1994) [PubMed] [Europe PMC] [Abstract]

"Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria."
J. Clin. Invest. 93:1812-1819(1994) [PubMed] [Europe PMC] [Abstract]

"Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation."
Hum. Mol. Genet. 6:1457-1464(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations."
Hum. Mutat. 9:1-6(1997) [PubMed] [Europe PMC] [Abstract]

"A common mutation among blacks with mut- methylmalonic aciduria."
Hum. Mutat. Suppl. 1:S248-S250(1998) [PubMed] [Europe PMC] [Abstract]

"Seven novel mutations in mut methylmalonic aciduria."
Hum. Mutat. 11:270-274(1998) [PubMed] [Europe PMC] [Abstract]

"mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation."
Hum. Mutat. 16:179-179(2000) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the MCM gene in Israeli patients with mut(0) disease."
Mol. Genet. Metab. 73:107-110(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene."
Hum. Mutat. 25:167-176(2005) [PubMed] [Europe PMC] [Abstract]

"Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants."
Mol. Genet. Metab. 84:317-325(2005) [PubMed] [Europe PMC] [Abstract]

"Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype."
Hum. Mutat. 27:31-43(2006) [PubMed] [Europe PMC] [Abstract]

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