Showing Protein 3 beta-hydroxysteroid dehydrogenase type 7 (HMDBP04980)

• 10575

1. 3 beta-hydroxysteroid dehydrogenase type VII
2. 3-beta-HSD VII
3. 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase
4. C(27) 3-beta-HSD
5. Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase

• 27-Hydroxylase Deficiency
• Cerebrotendinous Xanthomatosis (CTX)
• Congenital Bile Acid Synthesis Defect Type II
• Congenital Bile Acid Synthesis Defect Type III
• Familial Hypercholanemia (FHCA)
• Primary bile acid biosynthesis
• Primary bile acid biosynthesis
• steroid biosynthesis
• Zellweger Syndrome

1. Endoplasmic reticulum membrane
2. Multi-pass membrane protein

>1110 bp
ATGGCCGACTCTGCACAGGCCCAGAAGCTGGTGTACCTGGTCACAGGGGGCTGTGGCTTC
CTGGGAGAGCACGTGGTGCGGATGCTGCTGCAGCGGGAGCCCCGACTCGGGGAGCTGCGG
GTCTTTGACCAACACCTGGGTCCCTGGCTGGAGGAGCTGAAGACAGGGCCTGTGAGGGTG
ACTGCCATCCAGGGGGACGTGACCCAGGCCCATGAGGTGGCAGCAGCTGTGGCCGGAGCC
CATGTGGTCATCCACACGGCTGGGCTGGTAGACGTGTTTGGCAGGGCCAGTCCCAAGACC
ATCCATGAGGTCAACGTGCAGGGTACCCGGAACGTGATCGAGGCTTGTGTGCAGACCGGA
ACACGGTTCCTGGTCTACACCAGCAGCATGGAAGTTGTGGGGCCTAACACCAAAGGTCAC
CCCTTCTACAGGGGCAACGAAGACACCCCATACGAAGCAGTGCACAGGCACCCCTATCCT
TGCAGCAAGGCCCTGGCCGAGTGGCTGGTCCTGGAGGCCAACGGGAGGAAGGTCCGTGGG
GGGCTGCCCCTGGTGACGTGTGCCCTTCGTCCCACGGGCATCTACGGTGAAGGCCACCAG
ATCATGAGGGACTTCTACCGCCAGGGCCTGCGCCTGGGAGGTTGGCTCTTCCGGGCCATC
CCGGCCTCTGTGGAGCATGGCCGGGTCTATGTGGGCAATGTTGCCTGGATGCACGTGCTG
GCAGCCCGGGAGCTGGAGCAGCGGGCAGCCCTGATGGGCGGCCAGGTATACTTCTGCTAC
GATGGATCACCCCACAGGAGCTACGAGGATTTCAACATGGAGTTCCTGGGCCCCTGCGGA
CTGCGGCTGGTGGGCGCCCGCCCATTGCTGCCCTACTGGCTGCTGGTGTTCCTGGCTGCC
CTCAATGCCCTGCTGCAGTGGCTGCTGCGGCCACTGGTGCTCTACGCACCCCTGCTGAAC
CCCTACACGCTGGCCGTGGCCAACGCCACCTTCACCGTCAGCACCGACAAGGCTCAGCGC
CATTTCGGCTATGAGCCCCTGTTCTCGTGGGAGGATAGCCGGACCCGCACCATTCTCTGG
GTACAGGCCGCTACGGGTTCAGCCCAGTGA

• 3Beta_HSD (PF01073 )

>3 beta-hydroxysteroid dehydrogenase type 7
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRV
TAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTG
TRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRG
GLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVL
AARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILW
VQAATGSAQ

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2. Schwarz M, Wright AC, Davis DL, Nazer H, Bjorkhem I, Russell DW: The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest. 2000 Nov;106(9):1175-84. [PubMed:11067870 ]
3. Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW: Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab. 2003 Apr;88(4):1833-41. [PubMed:12679481 ]