QuickView for MCCC1;jsessionid=17A10C3D9CF63FBAF317BC9A0C0DD6E2 (gene)

Gene Symbol:

MCCC1 Homo sapiens

Full name:

methylcrotonoyl-CoA carboxylase 1

Synonyms:

MCC-B, MCCA, methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, 3-methylcrotonyl-CoA carboxylase 1, 3-methylcrotonyl-CoA carboxylase biotin-containing subunit, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha, MCCase subunit alpha, methylcrotonoyl-CoA carboxylase 1 (alpha), methylcrotonoyl-CoA carboxylase alpha, methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)

Genomic Location:

Chr 3: 184215700-184300059

Description:

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.

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.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  WGTTNNNNNAAA_UNKNOWN ,  TTGTTT_FOXO4_01

Cytogenetic Map:

3q27.1

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