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Literature summary for 1.1.1.178 extracted from

  • Yang, S.Y.; Dobkin, C.; He, X.Y.; Philipp, M.; Brown, W.T.
    A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation (2013), Gene, 515, 380-384.
    View publication on PubMed

Application

Application Comment Organism
medicine mutant loses most or all catalytic functions, and the males with this mutation have a severe clinical phenotype. The mutation eliminates several hydrogen bonds and reduces the van der Waals interaction between HSD10 subunits. The resulting disruption of protein structure impairs some if not all of the catalytic and non-enzymatic functions of HSD10. Eight patients with the R130C mutation show an average 2-methyl-3-hydroxybutyryl-CoA dehydrogenase activity of only 6% of the normal control level Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q99714
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Synonyms

Synonyms Comment Organism
17beta-HSD10
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Homo sapiens
3-hydroxyacyl-CoA dehydrogenase type II
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Homo sapiens