rs761552111
This variant is located in the HMGCL gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationDeficiency of hydroxymethylglutaryl-CoA lyase
View on ClinVar →About HMGCL
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
View all HMGCL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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