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MCCC1 encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. Additionally we are shipping Methylcrotonoyl-CoA Carboxylase 1 (Alpha) Antibodies (32) and Methylcrotonoyl-CoA Carboxylase 1 (Alpha) Proteins (6) and many more products for this protein.
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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 (show MCCC2 ELISA Kits) genes yielded 26 previously unreported mutations and a variant of clinically unknown significance.
Our study provides strong support for the susceptibility role of RAB7L1/NUCKS1 rs823118 and MCCC1 rs12637471 in sporadic Parkinson's disease in a Han Chinese population
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 ELISA Kits) (rs11711441) is associated with a lower risk of Parkinson's disease.
3-methylcrotonyl-CoA carboxylase (show MCCC2 ELISA Kits) 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 ELISA Kits) 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
Studies indicate that mutations in either 3-methylcrotonyl CoA carboxylase (show MCCC2 ELISA Kits) MCCA (At1g03090) or MCCB (show MCCC2 ELISA Kits) (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)