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- Table of Contents
Facts about Hydroxymethylglutaryl-CoA lyase, mitochondrial.
Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. .
Human | |
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Gene Name: | HMGCL |
Uniprot: | P35914 |
Entrez: | 3155 |
Belongs to: |
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HMG-CoA lyase family |
3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-CoA lyase; EC 4.1.3.4; HLmitochondrial
Mass (kDA):
34.36 kDA
Human | |
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Location: | 1p36.11 |
Sequence: | 1; NC_000001.11 (23801877..23825459, complement) |
Highest expression in liver. Expressed in pancreas, kidney, intestine, testis, fibroblasts and lymphoblasts. Very low expression in brain and skeletal muscle. The relative expression of isoform 2 (at mRNA level) is highest in heart (30%), skeletal muscle (22%), and brain (14%).
Mitochondrion matrix. Peroxisome. Unprocessed form is peroxisomal.
PMID: 8440722 by Mitchell G.A., et al. 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.
PMID: 8617516 by Wang S.P., et al. 3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.