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Gene : HMGCL Homo sapiens

Name  ? 3-hydroxy-3-methylglutaryl-CoA lyase Cytological Location  1p36.11
Brief Description  3-hydroxy-3-methylglutaryl-CoA lyase
Description  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]
  • synonyms:
  • HL,
  • BC010570,
  • OTTHUMG00000002963,
  • hydroxymethylglutaryl-CoA lyase,
  • HMGCL,
  • NM_000191,
  • HL,
  • 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase,
  • hydroxymethylglutaricaciduria,
  • 3-hydroxymethyl-3-methylglutaryl-CoA lyase,
  • uc001bib.4,
  • HGNC:5005
  • identifiers:
  • 3155,
  • ENSG00000117305,

Genome feature

Region: gene ? Length: 23545  
Location: 1:23801885-23825429 reverse strand Cyto location: 1p36.11

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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3740 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results