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Novel (founder) mutation in HIBCH that causes a mild phenotype, allowing survival into adulthood.
Polymorphism in HIBCH is associated with HIBCH deficiency.
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