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Literature summary for 1.1.1.181 extracted from

  • Cheng, J.B.; Jacquemin, E.; Gerhardt, M.; Nazer, H.; Cresteil, D.; Heubi, J.E.; Setchell, K.D.; Russell, D.W.
    Molecular genetics of 3beta-hydroxy-DELTA5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease (2003), J. Clin. Endocrinol. Metab., 88, 1833-1841.
    View publication on PubMed

Application

Application Comment Organism
medicine molecular analysis of 15 patients with neonatal cholestasis reveals 12 different mutations in HSD3B7 gene, 10 of them leading to complete inactivation of enzyme Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information molecular analysis of 15 patients with neonatal cholestasis reveals 12 different mutations in HSD3B7 gene, 10 of them leading to complete inactivation of enzyme Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining