HMGCL

GENE INFORMATION

? »

Gene name

HMGCL (HGNC Symbol)

Synonyms

HL

Description

3-hydroxymethyl-3-methylglutaryl-CoA lyase (HGNC Symbol)

Entrez 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. [provided by RefSeq, Oct 2009]

Chromosome

1

Cytoband

p36.11

Chromosome location (bp)

23801885 - 23838620

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117305 (version 78.38)

Entrez gene

3155

UniProt

P35914 (UniProt - Evidence at protein level)

neXtProt

NX_P35914

Antibodypedia

HMGCL antibodies
 

PROTEIN VIEW

? »
 
 
 
HMGCL-002
 
HMGCL-007
 
HMGCL-010
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HMGCL-002 ENSP00000363614
ENST00000374490
P35914
Show all »
Show » Show » 325 34.4 Yes 0
HMGCL-007 ENSP00000389281
ENST00000436439
P35914
Show all »
Show » Show » 254 26.9 Yes 0
HMGCL-010 ENSP00000235958
ENST00000235958
Show » Show » 182 19 No 0