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

Code CSB-EL013572HU
Size 96T,5×96T,10×96T How to order?
Trial Size 24T ELISA kits trial application
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Product Details

Alternative Names MCCC1 ELISA Kit; MCCAMethylcrotonoyl-CoA carboxylase subunit alpha ELISA Kit; mitochondrial ELISA Kit; MCCase subunit alpha ELISA Kit; EC 6.4.1.4 ELISA Kit; 3-methylcrotonyl-CoA carboxylase 1 ELISA Kit; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit ELISA Kit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha ELISA Kit
Abbreviation MCCC1
Uniprot No. Q96RQ3
Species Homo sapiens (Human)
Sample Types tissue homogenates, cell lysates
Detection Range 0.78 ng/ml-50ng/ml
Sensitivity 0.19 ng/ml
Assay Time 1-5h
Sample Volume 50-100ul
Detection Wavelength 450 nm
Research Area Metabolism
Assay Principle quantitative
Measurement Sandwich
ELISA Data Analysis Watch ELISA data processing video & download Curve Expert if needed
Troubleshooting
and FAQs
ELISA kit FAQs
Storage Store at 2-8°C. Please refer to protocol.
Lead Time 3-5 working days

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Target Background

Function
(From Uniprot)
Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.
Gene References into Functions
  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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Involvement in disease 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
Subcellular Location Mitochondrion matrix.
Database Links

HGNC: 6936

OMIM: 210200

KEGG: hsa:56922

STRING: 9606.ENSP00000265594

UniGene: Hs.47649

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