Gene: LOC105376861

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: HMGCL

Alternate names for this Gene: HL

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: 3-hydroxy-3-methylglutaryl-CoA lyase

Type of Gene: protein-coding

rs1409716731 in LOC105376861;HMGCL gene and HMG CoA lyase deficiency PMID 14518825 2003 Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.

PMID 28583327 2017 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

rs6424115 in LOC105376861;HMGCL gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.