| Entry |
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| Gene name |
DHCR7, SLOS
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| Definition |
7-dehydrocholesterol reductase (EC:1.3.1.21)
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| Orthology |
| 7-dehydrocholesterol reductase [EC: 1.3.1.21] |
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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 |
| Smith-Lemli-Opitz syndrome | | 46,XY disorders of sex development (Disorders in androgen synthesis or action) |
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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 |
11q13.4
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| AA seq |
475 aa  
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF |
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| NT seq |
1428 nt  +upstreamnt +downstreamnt
atggctgcaaaatcgcaacccaacattcccaaagccaagagtctagatggcgtcaccaat
gacagaaccgcatctcaagggcagtggggccgtgcctgggaggtggactggttttcactg
gcgagcgtcatcttcctactgctgttcgcccccttcatcgtctactacttcatcatggct
tgtgaccagtacagctgcgccctgactggccctgtggtggacatcgtcaccggacatgct
cggctctcggacatctgggccaagactccacctataacgaggaaagccgcccagctctat
accttgtgggtcaccttccaggtgcttctgtacacgtctctccctgacttctgccataag
tttctacccggctacgtaggaggcatccaggagggggccgtgactcctgcaggggttgtg
aacaagtatcagatcaatggcctgcaagcctggctcctcacgcacctgctctggtttgca
aacgctcatctcctgtcctggttctcgcccaccatcatcttcgacaactggatcccactg
ctgtggtgcgccaacatccttggctatgccgtctccaccttcgccatggtcaagggctac
ttcttccccaccagcgccagagactgcaaattcacaggcaatttcttttacaactacatg
atgggcatcgagtttaaccctcggatcgggaagtggtttgacttcaagctgttcttcaat
gggcgccccgggatcgtcgcctggaccctcatcaacctgtccttcgcagcgaagcagcgg
gagctccacagccatgtgaccaatgccatggtcctggtcaacgtcctgcaggccatctac
gtgattgacttcttctggaacgaaacctggtacctgaagaccattgacatctgccatgac
cacttcgggtggtacctgggctggggcgactgtgtctggctgccttatctttacacgctg
cagggtctgtacttggtgtaccaccccgtgcagctgtccaccccgcacgccgtgggcgtc
ctgctgctgggcctggtgggctactacatcttccgggtggccaaccaccagaaggacctg
ttccgccgcacggatgggcgctgcctcatctggggcaggaagcccaaggtcatcgagtgc
tcctacacatccgccgatgggcagaggcaccacagcaagctgctggtgtcgggcttctgg
ggcgtggcccgccacttcaactacgtcggcgacctgatgggcagcctggcctactgcctg
gcctgtggcggcggccacctgctgccctacttctacatcatctacatggccatcctgctg
acccaccgctgcctccgggacgagcaccgctgcgccagcaagtacggccgggactgggag
cgctacaccgccgcagtgccttaccgcctgctgcctggaatcttctaa |
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