3bpt

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Template:STRUCTURE 3bpt

Contents 1 Crystal structure of human beta-hydroxyisobutyryl-CoA hydrolase in complex with quercetin 2 Disease 3 Function 4 About this Structure 5 Reference

Crystal structure of human beta-hydroxyisobutyryl-CoA hydrolase in complex with quercetin

Disease

[HIBCH_HUMAN] Defects in HIBCH are the cause of HIBCH deficiency (HIBCHD) [MIM:250620]; also known as deficiency of beta-hydroxyisobutyryl CoA deacylase or methacrylic aciduria. The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during first stages of life.^[1]

Function

[HIBCH_HUMAN] 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.^[2]

About this Structure

3bpt is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

1. ↑ Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. Am J Hum Genet. 2007 Jan;80(1):195-9. Epub 2006 Nov 30. PMID:17160907 doi:S0002-9297(07)60934-3
2. ↑ Hawes JW, Jaskiewicz J, Shimomura Y, Huang B, Bunting J, Harper ET, Harris RA. Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase. J Biol Chem. 1996 Oct 18;271(42):26430-4. PMID:8824301