rs201806708
This variant is located in the MCCC1 gene.
▶ClinVar annotation
Conflicting Classifications
4 submitters1 publication3-methylcrotonyl-CoA carboxylase 1 deficiency; not provided
View on ClinVar →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]
View all MCCC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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