3-Hydroxyisobutyryl-CoA Hydrolase

Alternative Names

  • HIBCH
  • Beta-Hydroxyisobutyryl-Coenzyme A Hydrolase
  • Hibyl-CoA-H
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OMIM Number

610690

NCBI Gene ID

26275

Uniprot ID

Q6NVY1

Length

115,907 bases

No. of Exons

16

No. of isoforms

2

Protein Name

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial

Molecular Mass

43482 Da

Amino Acid Count

386

Genomic Location

chr2:190,203,919-190,319,825

Gene Map Locus
2q32.2

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_014362.4:c.196C>TLebanonNC_000002.12:g.190296836G>AUncertain Significance3-Hydroxyisobutyryl-Coa Hydrolase DeficiencyNG_017062.1:g.28210C>T; NM_014362.4:c.196C>T; NP_055177.2:p.Arg66Trp757976755190268
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