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Gene : HIBCH Homo sapiens

Name  ? 3-hydroxyisobutyryl-CoA hydrolase Cytological Location  2q32.2
Brief Description  3-hydroxyisobutyryl-CoA hydrolase
description  This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
  • synonyms:
  • NM_014362,
  • OTTHUMG00000132673,
  • U66669,
  • 3-hydroxyisobutyryl-Coenzyme A hydrolase,
  • HIBCH,
  • HGNC:4908,
  • uc002uru.3,
  • HIBYLCOAH
  • identifiers:
  • 26275,
  • ENSG00000198130,
  • HIBCH

Genome feature

Region: gene ? Length: 115412  
Location: 2:190204634-190320045 reverse strand Cyto location: 2q32.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

2011 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results