Protein Name | methylcrotonyl-CoA carboxylase subunit 2 |
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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 |
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Properties | |