| Entry |
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| Gene name |
RDH12, LCA13, LCA3, RP53, SDR7C2
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| Definition |
retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (EC:1.1.1.-)
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| Orthology |
| retinol dehydrogenase 12 [EC:1.1.1.-] |
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| Organism |
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| Pathway |
| Retinol metabolism | | Metabolic pathways |
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| Disease |
| Leber congenital amaurosis (LCR) |
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| Class |
Metabolism; Metabolism of cofactors and vitamins; Retinol metabolism [PATH: hsa00830]
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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 |
14q24.1
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| AA seq |
316 aa  
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELA
SRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLH
ILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHI
GKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTA
ERLWNVSCELLGIRWE |
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| NT seq |
951 nt  +upstreamnt +downstreamnt
atgctggtcaccttgggactgctcacctccttcttctcgttcctgtatatggtagctcca
tccatcaggaagttctttgctggtggagtgtgtagaacaaatgtgcagcttcctggcaag
gtagtggtgatcactggcgccaacacgggcattggcaaggagacggccagagagctcgct
agccgaggagcccgagtctatattgcctgcagagatgtactgaagggggagtctgctgcc
agtgaaatccgagtggatacaaagaactcccaggtgctggtgcggaaattggacctatcc
gacaccaaatctatccgagcctttgctgagggctttctggcagaggaaaagcagctccat
attctgatcaacaatgcgggagtaatgatgtgtccatattccaagacagctgatggcttt
gaaacccacctgggagtcaaccacctgggccacttcctcctcacctacctgctcctggag
cggctaaaggtgtctgcccctgcacgggtggttaatgtgtcctcggtggctcaccacatt
ggcaagattcccttccacgacctccagagcgagaagcgctacagcaggggttttgcctat
tgccacagcaagctggccaatgtgctttttactcgtgagctggccaagaggctccaaggc
accggggtcaccacctacgcagtgcacccaggcgtcgtccgctctgagctggtccggcac
tcctccctgctctgcctgctctggcggctcttctccccctttgtcaagacggcacgggag
ggggcgcagaccagcctgcactgcgccctggctgagggcctggagcccctgagtggcaag
tacttcagtgactgcaagaggacctgggtgtctccaagggcccgaaataacaaaacagct
gagcgcctatggaatgtcagctgtgagcttctaggaatccggtgggagtag |
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