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MCCC1 encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. Additionally we are shipping Methylcrotonoyl-CoA Carboxylase 1 (Alpha) Antibodies (31) and Methylcrotonoyl-CoA Carboxylase 1 (Alpha) Kits (1) and many more products for this protein.
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Novel mutations in MCCC1 gene were identified in Chinese population. The expression profiles of two splice mutations (c.639+2T>A and c.639+5G>T) were also characterized.
Four new point mutations were detected in the MCCC1 gene in patients with maternal 3-methylcrotonyl coenzyme deficiency.
This study demonistrated that Mainland China demonstrates that MCCC1/LAMP3 (show CD63 Proteins) (rs11711441) is associated with a lower risk of Parkinson's disease.
3-methylcrotonyl-CoA carboxylase (show MCCC2 Proteins) inhibition has a role in increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
Mutation in 3-methylcrotonyl CoA carboxylase 1 gene is associated with 3-methylcrotonyl-CoA carboxylase (show MCCC2 Proteins) deficiency.
study reports eight different mutant alleles of MCCC1 or MCCC2 (show MCCC2 Proteins) including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (show MCCC2 Proteins) (MCC (show MCC Proteins)) deficiency
identified two novel MCCA and four novel MCCB mutant alleles from five MCC (show MCC Proteins)-deficient patients
factors other than the genotype at the MCCA and MCCB loci have a major influence on the phenotype of MCC (show MCC Proteins) deficiency
The amino-termini containing 39 (MCCalpha) or 20 amino acids (MCCbeta) were both necessary and sufficient for targeting. Structural requirements for mitochondrial import were defined by site-directed mutagenesis.
Molecular analyses revealed novel mutations in one of the causative genes, MCCA or MCCB, in all five of the MCC (show MCC Proteins) deficiency patients
Studies indicate that mutations in either 3-methylcrotonyl CoA carboxylase (show MCCC2 Proteins) MCCA (At1g03090) or MCCB (show MCCC2 Proteins) (At4g34030) block mitochondrial Leu catabolism, as inferred from the increased accumulation of Leu.
This gene encodes 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.
3-methylcrotonyl-CoA carboxylase 1
, 3-methylcrotonyl-CoA carboxylase biotin-containing subunit
, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha
, MCCase subunit alpha
, methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
, methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)