Human Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial(MCCC1) ELISA kit

1. MCCC1 plays an essential role in virus-triggered, MAVS-mediated activation of NF-kappaB signaling. PMID: 27629939
2. 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. PMID: 27601257
3. 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 PMID: 26914237
4. 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. PMID: 25382614
5. Four new point mutations were detected in the MCCC1 gene in patients with maternal 3-methylcrotonyl coenzyme deficiency. PMID: 24078573
6. This study demonistrated that Mainland China demonstrates that MCCC1/LAMP3 (rs11711441) is associated with a lower risk of Parkinson's disease. PMID: 23496138
7. 3-methylcrotonyl-CoA carboxylase inhibition has a role in increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients PMID: 22189597
8. Mutation in 3-methylcrotonyl CoA carboxylase 1 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency. PMID: 22264772
9. study reports eight different mutant alleles of MCCC1 or MCCC2 including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency PMID: 22150417
10. identified two novel MCCA and four novel MCCB mutant alleles from five MCC-deficient patients PMID: 21071250
11. factors other than the genotype at the MCCA and MCCB loci have a major influence on the phenotype of MCC deficiency PMID: 16010683
12. 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. PMID: 16023992
13. Molecular analyses revealed novel mutations in one of the causative genes, MCCA or MCCB, in all five of the MCC deficiency patients PMID: 17968484
14. A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. PMID: 19339287
15. analysis of a novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency PMID: 19706617

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HGNC: 6936

OMIM: 210200

KEGG: hsa:56922

STRING: 9606.ENSP00000265594

UniGene: Hs.47649