HIBCH

Chr 2AR

3-hydroxyisobutyryl-CoA hydrolase

Also known as: HIBYLCOAH

NCBI Gene: 26275 ENSG00000198130 UniProt: Q6NVY1 OMIM: 610690

The protein functions as a mitochondrial enzyme that hydrolyzes both 3-hydroxyisobutyryl-CoA and beta-hydroxypropionyl-CoA in the valine catabolic pathway. Mutations cause 3-hydroxyisobutyryl-CoA hydrolase deficiency, an autosomal recessive disorder of branched-chain amino acid metabolism. Disease results from loss of enzyme function leading to accumulation of toxic metabolites.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

3-hydroxyisobutryl-CoA hydrolase deficiencyMIM #250620

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — HIBCH