Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

HSD3B7 - hydroxy-delta-5-steroid dehydrogenase, 3...

Homo sapiens

Synonyms: 3 beta-hydroxysteroid dehydrogenase type 7, 3 beta-hydroxysteroid dehydrogenase type VII, 3-beta-HSD VII, 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase, C(27) 3-beta-HSD, ...

Cheng, J.B. et al.

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Disease relevance of HSD3B7

We conclude that a diverse spectrum of mutations in the HSD3B7 gene underlies this rare form of neonatal cholestasis [1].
Subjects with autosomal recessive mutations in the encoding gene, HSD3B7, on chromosome 16p11.2-12 fail to synthesize bile acids and develop a form of progressive liver disease characterized by cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract [1].

High impact information on HSD3B7

Twelve different mutations were identified in the HSD3B7 gene on chromosome 16p11.2-12 [1].

References

Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. Cheng, J.B., Jacquemin, E., Gerhardt, M., Nazer, H., Cresteil, D., Heubi, J.E., Setchell, K.D., Russell, D.W. J. Clin. Endocrinol. Metab. (2003) [Pubmed]

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