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HIBCH 3-hydroxyisobutyryl-CoA hydrolase

Gene ID: 26275, updated on 5-Jan-2022
Gene type: protein coding
Also known as: HIBYLCOAH

Summary

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]

Associated conditions

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DescriptionTests
Beta-hydroxyisobutyryl-CoA deacylase deficiency
MedGen: C0342738OMIM: 250620GeneReviews: Not available
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Genomic context

Location:
2q32.2
Sequence:
Chromosome: 2; NC_000002.12 (190203920..190319826, complement)
Total number of exons:
16

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