Gene

hmgcl

ID
ZDB-GENE-040426-958
Name
3-hydroxy-3-methylglutaryl-CoA lyase
Symbol
hmgcl Nomenclature History
Previous Names
  • zgc:56248
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to have hydroxymethylglutaryl-CoA lyase activity. Predicted to be involved in ketone body biosynthetic process; leucine catabolic process; and lipid metabolic process. Human ortholog(s) of this gene implicated in amino acid metabolic disorder. Orthologous to human HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hmgcl Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
3-hydroxy-3-methylglutaryl-CoA lyase deficiency Alliance HMG-CoA lyase deficiency 246450
Associated With hmgcl Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR000138 Hydroxymethylglutaryl-CoA lyase, active site
Domain IPR000891 Pyruvate carboxyltransferase
Family IPR043594 HMG-CoA lyase
Homologous_superfamily IPR013785 Aldolase-type TIM barrel
Domain Details Per Protein
Protein Length Aldolase-type TIM barrel HMG-CoA lyase Hydroxymethylglutaryl-CoA lyase, active site Pyruvate carboxyltransferase
UniProtKB:Q7ZV32 340
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA hmgcl-201 (1) Ensembl 2,008 nt
mRNA hmgcl-203 (1) Ensembl 2,067 nt
mRNA hmgcl-204 (1) Ensembl 2,539 nt
ncRNA hmgcl-002 (1) Ensembl 535 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations