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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HMGCL (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3155
Official gene symbolHMGCL
Full name3-hydroxymethyl-3-methylglutaryl-CoA lyase
Aliases,HL,
Gene summaryThe 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]
LocationChromosome: 1   Locus: 1p36.1-p35
Gene position24151949 - 24128367  Map Viewer
Gene orientationminus
Gene size23583 bp
Gene sequence
OMIM ID246450