HIBADH 3-hydroxyisobutyrate dehydrogenase
Gene ID: 11112, updated on 27-Aug-2024Gene type: protein coding
Also known as: NS5ATP1
- See all available tests in GTR for this gene
- Go to complete Gene record for HIBADH
- Go to Variation Viewer for HIBADH variants
Summary
This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
Genomic context
- Location:
- 7p15.2
- Sequence:
- Chromosome: 7; NC_000007.14 (27525442..27662883, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HIBADH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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