QuickView for MCCB (gene)

Gene Symbol:

MCCC2 Homo sapiens

Full name:

methylcrotonoyl-CoA carboxylase 2

Synonyms:

MCCB, methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, 3-methylcrotonyl-CoA carboxylase 2, 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta, MCCase subunit beta, biotin carboxylase, methylcrotonoyl-CoA carboxylase 2 (beta), methylcrotonoyl-Coenzyme A carboxylase 2 (beta), non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase, testicular secretory protein Li 29

Genomic Location:

Chr 5: 70918910-70988981

Description:

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.

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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Gallus gallus ,  Bos taurus

External Links:

Entrez Gene

Cytogenetic Map:

5q13.2

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