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MCCC2 encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. Zusätzlich bieten wir Ihnen Methylcrotonoyl-CoA Carboxylase 2 (Beta) Antikörper (76) und Methylcrotonoyl-CoA Carboxylase 2 (Beta) Kits (1) und viele weitere Produktgruppen zu diesem Protein an.
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This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance.
Novel mutation in MCCC2 gene was identified in Chinese population.
Mutation in 3-methylcrotonyl CoA carboxylase 2 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency.
study reports eight different mutant alleles of MCCC1 or MCCC2 including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency
identified two novel MCCA and four novel MCCB mutant alleles from five MCC-deficient patients
factors other than the genotype at the MCCA and MCCB loci have a major influence on the phenotype of MCC deficiency
The amino-termini containing 20 amino acids (MCCbeta) were both necessary and sufficient for targeting. Structural requirements for mitochondrial import were defined by site-directed mutagenesis.
The Kd value of soraphen A for the BC domains of human ACC1 and ACC2 is 1 nM. This high binding affinity is mainly due to the extensive interactions between soraphen A and the human biotin carboxylase domain
Molecular analyses revealed novel mutations in one of the causative genes, MCCA or MCCB, in all five of the MCC deficiency patients
Studies indicate that mutations in either 3-methylcrotonyl CoA carboxylase MCCA (At1g03090) or MCCB (At4g34030) block mitochondrial Leu catabolism, as inferred from the increased accumulation of Leu.
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.
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
, methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
, methylcrotonoyl-CoA carboxylase 2 (beta)
, methylcrotonoyl-CoA carboxylase beta chain, mitochondrial-like
, 3-methylcrotonyl-CoA carboxylase 2
, 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit
, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta
, MCCase subunit beta
, biotin carboxylase
, non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase