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Details on Person 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Is caused by mutations in the HADH2 gene

Class:IdLiteratureReference:70832
_displayName2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Is caused by mutations in the HADH2 gene
_timestamp2003-10-30 07:42:09
author[Person:70833] Ofman, Rob
[Person:70779] Ruiter, Jos P N
[Person:69961] Feenstra, M
[Person:70780] Duran, M
[Person:70834] Poll-The, BT
[Person:69962] Zschocke, J
[Person:69963] Ensenauer, R
[Person:70781] Lehnert, W
[Person:69964] Sass, JO
[Person:69965] Sperl, W
journalAm J Hum Genet
modified[InstanceEdit:389895] D'Eustachio, P, 2009-01-19 22:23:09
pages1300-7
pubMedIdentifier12696021
title2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
volume72
year2003
(literatureReference)[EntityWithAccessionedSequence:70831] HSD17B10 [mitochondrial matrix] [Homo sapiens]
[Reaction:70837] alpha-methyl-beta-hydroxybutyryl-CoA + NAD+ <=> alpha-methylacetoacetyl-CoA + NADH + H+ [Homo sapiens]
[Reaction:508369] alpha-methylacetoacetyl-CoA + NADH + H+ <=> alpha-methyl-beta-hydroxybutyryl-CoA + NAD+ [Homo sapiens]
[CatalystActivityReference:9643191] 3-hydroxyacyl-CoA dehydrogenase activity of HSD17B10 tetramer [mitochondrial matrix] 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Is caused by mutations in the HADH2 gene
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