HMGCL wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HMGCL wild-type allele is located in the vicinity of 1p36.11 and is approximately 37 kb in length. This allele, which encodes hydroxymethylglutaryl-CoA lyase, mitochondrial protein, plays a role in ketogenesis and leucine degradation. Loss of function mutations in the gene are associated with HMG-CoA lyase deficiency.

**Synonyms:** - 3-Hydroxy-3-Methylglutaryl-CoA Lyase wt Allele - 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase Gene - 3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase Gene - HL - HMG-CoA Lyase Gene - HMGCL1 - Hydroxymethylglutaricaciduria Gene - Hydroxymethylglutaryl-CoA Lyase Gene - Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Lyase Gene