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HIBCH encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Additionally we are shipping HIBCH Proteins (7) and HIBCH Kits (6) and many more products for this protein.
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Human Polyclonal HIBCH Primary Antibody for EIA, WB - ABIN359598
Hawes, Jaskiewicz, Shimomura, Huang, Bunting, Harper, Harris: Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase. in The Journal of biological chemistry 1996
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Human Polyclonal HIBCH Primary Antibody for IHC (p), WB - ABIN391638
Loupatty, Clayton, Ruiter, Ofman, Ijlst, Brown, Thorburn, Harris, Duran, Desousa, Krywawych, Heales, Wanders: Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. in American journal of human genetics 2006
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findings demonstrated a novel homozygous pathogenic missense mutation c.950G HIBCH gene, which segregated with infantile-onset neurodegeneration within a Pakistani family; HIBCH deficiency, a disorder of valine catabolism, is a novel cause of the multiple mitochondrial dysfunctions syndrome
Molecular analysis in both patients uncovered mutations in the HIBCH gene, including one missense mutation in a conserved part of the protein and two mutations affecting splicing.
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.
3-hydroxyisobutyryl-coenzyme A hydrolase
, 3-hydroxyisobutyryl-coenzyme a hydrolase
, 3-hydroxyisobutyryl-Coenzyme A hydrolase
, 3-hydroxyisobutyryl-CoA hydrolase
, 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
, HIB-CoA hydrolase