HIBCH gene

3-hydroxyisobutyryl-CoA hydrolase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Beta-hydroxyisobutyryl-CoA deacylase deficiency

From UniProt:

3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD): An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. [MIM:250620]

Cytogenetic Location: 2q32.2, which is the long (q) arm of chromosome 2 at position 32.2

Molecular Location: base pairs 190,204,634 to 190,320,045 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q32.2, which is the long (q) arm of chromosome 2 at position 32.2
  • HIBYLCOAH