rs780499601

This variant is located in the MCCC1 gene.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter1 publication

3-methylcrotonyl-CoA carboxylase 1 deficiency

About MCCC1

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. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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