RecName: Full=3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; AltNa - Protein

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High-level heterologous expression of the human transmembrane sterol Δ8,Δ7-isomerase in Pichia pastoris. [Protein Expr Purif. 2019]
High-level heterologous expression of the human transmembrane sterol Δ8,Δ7-isomerase in Pichia pastoris.
Cai H, Yao H, Li T, Tang Y, Li D. Protein Expr Purif. 2019 Dec; 164:105463. Epub 2019 Aug 2.
Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition. [Nat Commun. 2019]
Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.
Long T, Hassan A, Thompson BM, McDonald JG, Wang J, Li X. Nat Commun. 2019 Jun 5; 10(1):2452. Epub 2019 Jun 5.
Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C). [Pediatr Dermatol. 2014]
Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA. Pediatr Dermatol. 2014 Jul-Aug; 31(4):493-6. Epub 2014 Jun 11.

RefSeq genomic sequence
See the genomic reference sequence for the EBP gene (NG_007452.1).
RefSeq protein
See the reference protein sequence for 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (NP_006570.1).

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Q15125 [Domain Mapping of Disease Mut...]
Q15125
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; AltName: Full=C...
RecName: Full=3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; AltName: Full=Cholestenol Delta-isomerase; AltName: Full=Delta(8)-Delta(7) sterol isomerase; Short=D8-D7 sterol isomerase; AltName: Full=Emopamil-binding protein
gi|17374795|sp|Q15125.3|EBP_HUMAN

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