| Entry |
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| Gene name |
HSD3B2, HSD3B, HSDB, SDR11E2
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| Definition |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (EC:1.1.1.145 5.3.3.1)
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| Orthology |
| 3beta-hydroxy-delta5-steroid dehydrogenase / steroid delta-isomerase [EC: 1.1.1.145 5.3.3.1] |
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| Organism |
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| Pathway |
| Steroid hormone biosynthesis | | Metabolic pathways | | Ovarian steroidogenesis |
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| Module |
| Steroid hormone biosynthesis, cholesterol => prognenolone => progesterone | | C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone |
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| Disease |
| Congenital adrenal hyperplasia (CAH) | | 46,XX disorders of sex development (Disorders related to androgen excess) | | 46,XY disorders of sex development (Disorders in androgen synthesis or action) |
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| Class |
Metabolism; Lipid metabolism; Steroid hormone biosynthesis [PATH: hsa00140]
Organismal Systems; Endocrine system; Ovarian Steroidogenesis [PATH: hsa04913]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
1p13.1
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| AA seq |
372 aa  
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG
DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI
YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY
TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR
DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV
DRHKETLKSKTQ |
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| NT seq |
1119 nt  +upstreamnt +downstreamnt
atgggctggagctgccttgtgacaggagcaggagggcttctgggtcagaggatcgtccgc
ctgttggtggaagagaaggaactgaaggagatcagggccttggacaaggccttcagacca
gaattgagagaggaattttctaagctccagaacaggaccaagctgactgtacttgaagga
gacattctggatgagccattcctgaaaagagcctgccaggacgtctcggtcgtcatccac
accgcctgtatcattgatgtctttggtgtcactcacagagagtccatcatgaatgtcaat
gtgaaaggtacccagctactgttggaggcctgtgtccaagccagtgtgccagtcttcatc
tacaccagtagcatagaggtagccgggcccaactcctacaaggaaatcatccagaacggc
cacgaagaagagcctctggaaaacacatggcccactccatacccgtacagcaaaaagctt
gctgagaaggctgtgctggcggctaatgggtggaatctaaaaaatggtgataccttgtac
acttgtgcgttaagacccacatatatctatggggaaggaggcccattcctttctgccagt
ataaatgaggccctgaacaacaatgggatcctgtcaagtgttggaaagttctctacagtc
aacccagtctatgttggcaacgtggcctgggcccacattctggccttgagggctctgcgg
gaccccaagaaggccccaagtgtccgaggtcaattctattacatctcagatgacacgcct
caccaaagctatgataaccttaattacatcctgagcaaagagtttggcctccgccttgat
tccagatggagccttcctttaaccctgatgtactggattggcttcctgctggaagtagtg
agcttcctactcagcccaatttactcctatcaaccccccttcaaccgccacacagtcaca
ttatcaaatagtgtgttcaccttctcttacaagaaggctcagcgagatctggcgtataag
ccactctacagctgggaggaagccaagcagaaaaccgtggagtgggttggttcccttgtg
gaccggcacaaggagaccctgaagtccaagactcagtga |
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