Protein Name methylcrotonyl-CoA carboxylase subunit 2
Organism Homo sapiens
Gene ID 64087
Gene Symbol

MCCC2

UniProt Q9HCC0 (MCCB_HUMAN), A0A140VK29 (A0A140VK29_HUMAN)
Relationships Total Number of functionally related compound(s) : 54
Total Number of Articles : 45
Description

methylcrotonyl-CoA carboxylase subunit 2

Gene Summary

This gene encodes the small 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

synonyms
  • methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
  • 3-methylcrotonyl-CoA carboxylase 2
  • 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit
Click to show/hide the synonyms
Properties