| Entry |
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| Gene name |
NSDHL, H105E3, SDR31E1, XAP104
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| Definition |
NAD(P) dependent steroid dehydrogenase-like (EC:1.1.1.170)
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| Orthology |
| sterol-4alpha-carboxylate 3-dehydrogenase (decarboxylating) [EC: 1.1.1.170] |
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| Organism |
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| Pathway |
| Steroid biosynthesis | | Metabolic pathways |
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| Module |
| Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol |
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| Disease |
| Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) | | Syndromic X-linked mental retardation with epilepsy or seizures |
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| Class |
Metabolism; Lipid metabolism; Steroid biosynthesis [PATH: hsa00100]
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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 |
Xq28
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| AA seq |
373 aa  
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLAR
GYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRV
NYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQE
RAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAME
RTVQSFRHLRRVK |
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| NT seq |
1122 nt  +upstreamnt +downstreamnt
atggaaccagcagttagcgagccaatgagagaccaagtcgcacggactcatttgacagag
gacactcccaaagtgaatgctgacatagaaaaggttaaccagaatcaggccaagagatgc
acagtgatcggtggctctggattcctggggcagcacatggtggagcagttgctggcaaga
ggatatgctgtcaatgtatttgatatccagcaagggtttgataatccccaggtgcggttc
tttctgggtgacctctgcagccgacaggatctgtacccagctctgaaaggtgtaaacaca
gttttccactgtgcgtcacccccaccatccagtaacaacaaggagctcttttatagagtg
aattacattggcaccaagaatgtcattgaaacttgcaaagaggctggggttcagaaactc
attttaaccagcagtgccagtgtcatctttgagggcgtcgatatcaagaatggaactgaa
gaccttccctatgccatgaaacccattgactactacacagagactaagatcttacaggag
agggcagttctgggcgccaacgatcctgagaagaatttcttaaccacagccatccgccct
catggcattttcggcccaagggacccgcagttggtacccatcctcatcgaggcagccagg
aacggcaagatgaagttcgtgattggaaatgggaagaacttggtggacttcacctttgtg
gagaacgtggtccatggacacatcctggcggcagagcagctctcccgagactcgacactg
ggtgggaaggcatttcacatcaccaatgatgagcccatccctttctggacattcctgtct
cgcatcctgacaggcctcaattatgaggcccccaagtaccacatcccctactgggtggcc
tactacctggccctcctgctatccctgctggtgatggtgatcagtcctgtcatccagctg
cagcccaccttcacacccatgcgggtcgcactggctggcacattccactactacagctgc
gagagagccaaaaaggccatgggctaccagccactagtgaccatggatgatgctatggag
aggaccgtgcagagctttcgccacctgcggagggtcaagtga |
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