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

Summary

Host Animal

Mouse

Specificity

Human

Clone

CBFYM-1864

Antibody Isotype

IgG2a

Application

Basic Information

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.

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.

More Infomation

References

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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Protocols

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)
Proteogenomics
Other Protocols

Associated Products

Related Products

Mouse Anti-MCCC1 Recombinant Antibody (CBFYM-0602)

Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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Documents

Datasheet
SDS
Request for COA

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Second antibody and isotype control

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