rs761934596
This variant is located in the HMGCL gene.
▶ClinVar annotation
Likely Benign★☆☆☆
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…