RecName: Full=3 beta-hydroxysteroid dehydrogenase type 7; AltName: Ful - Protein

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Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China. [Orphanet J Rare Dis. 2021]
Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China.
Zhao J, Setchell KDR, Gong Y, Sun Y, Zhang P, Heubi JE, Fang L, Lu Y, Xie X, Gong J, et al. Orphanet J Rare Dis. 2021 Oct 9; 16(1):417. Epub 2021 Oct 9.
The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese. [Brain Behav. 2018]
The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese.
Lu ZJ, Wang L, Sun XY, Li JY, Cheng L, Li NN, Peng R. Brain Behav. 2018 Apr; 8(4):e00913. Epub 2018 Feb 17.
Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis. [Chin Med J (Engl). 2016]
Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.
Huang HY, Zhou H, Wang H, Chen YX, Fang F. Chin Med J (Engl). 2016 Jan 5; 129(1):98-100.

RefSeq genomic sequence
See the genomic reference sequence for the HSD3B7 gene (NG_012346.1).
RefSeq protein isoforms
See 15 reference sequence protein isoforms for the HSD3B7 gene.

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Q9H2F3 [Domain Mapping of Disease Mut...]
Q9H2F3
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
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ExactAntigen/Labome

RecName: Full=3 beta-hydroxysteroid dehydrogenase type 7; AltName: Full=3 beta-h...
RecName: Full=3 beta-hydroxysteroid dehydrogenase type 7; AltName: Full=3 beta-hydroxysteroid dehydrogenase type VII; Short=3-beta-HSD VII; AltName: Full=3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; Short=C(27) 3-beta-HSD; AltName: Full=Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase
gi|47605550|sp|Q9H2F3.2|3BHS7_HUMAN

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