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Gene : HMGCL Homo sapiens

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

Genome feature

Region: gene ? Length: 23583  
Location: 1:23801877-23825459 reverse strand Cyto location: 1p36.11


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Proteins

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SNPs

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Disease

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

2011 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results