Mouse Anti-MCCC1 Recombinant Antibody (CBFYM-1864) (CBMAB-M2035-FY)

Name: Mouse Anti-MCCC1 Recombinant Antibody (CBFYM-1864)
SKU: CBMAB-M2035-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYM-1864

Application

Specificity

Human

Antibody Isotype

IgG2a

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Concentration

1 mg/mL

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

METHYLCROTONOYL-COA CARBOXYLASE 1

Introduction

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.

Entrez Gene ID

56922

UniProt ID

Q96RQ3

Alternative Names

Methylcrotonoyl-CoA Carboxylase 1; 3-Methylcrotonyl-CoA Carboxylase Biotin-Containing Subunit; 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Alpha; Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha); Methylcrotonoyl-CoA Carboxylase Alpha; 3-Methylcrotonyl-CoA Carboxylase 1; MCCase Subunit Alpha

Function

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.

Biological Process

Biotin metabolic process Source: UniProtKB
Branched-chain amino acid catabolic process Source: ComplexPortal
Leucine catabolic process Source: ParkinsonsUK-UCL

Cellular Location

Mitochondrion matrix

Involvement in disease

3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D):
An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.

PTM

Acetylated.

Lim, J. L., Ng, E. Y., Lim, S. Y., Tan, A. H., Abdul-Aziz, Z., Ibrahim, K. A., ... & Ahmad-Annuar, A. (2021). Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson’s disease in patients of Malay ancestry. Neurological Sciences, 42, 4203-4207.

Liao, F., Tan, Y., Wang, Y., Zhou, C., Wang, Q., Li, J., ... & Peng, X. (2021). lncRNA AABR07005593. 1 potentiates PM2. 5-induced interleukin-6 expression by targeting MCCC1. Ecotoxicology and Environmental Safety, 226, 112834.

Shao, Z., Masuho, I., Tumber, A., Maynes, J. T., Tavares, E., Ali, A., ... & Vincent, A. (2021). Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. Genes, 12(9), 1352.

Zhao, A., Li, Y., Niu, M., Li, G., Luo, N., Zhou, L., ... & Liu, J. (2020). SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population. Journal of Cellular and Molecular Medicine, 24(15), 8744-8752.

Chang, K. H., Chen, C. M., Chen, Y. C., Fung, H. C., & Wu, Y. R. (2019). Polymorphisms of ACMSD-TMEM163, MCCC1, and BCKDK-STX1B are not associated with Parkinson’s disease in Taiwan. Parkinson’s Disease, 2019.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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For research use only. Not intended for any clinical use.

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