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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SPR (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 6697 Official gene symbol SPR Full name sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) Aliases ,SDR38C1, Gene summary This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq] Location Chromosome: 2   Locus: 2p14-p12 Gene position 73114512 - 73119289  Map Viewer Gene orientation plus Gene size 4778 bp Gene sequence >SPR:51936399..51941176:Length=4778 CGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCG GGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGG CCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACG ACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGG TGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGC GCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGA CCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTT AAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAG CTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTC TGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCC CGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAAC AAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGG CAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCA GAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGC ATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGC ACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTC GTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATG CTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACC GTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGT GCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTG AGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACC CACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACC CACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGG GAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGA GGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGT TCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAA GACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTT AAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTG ACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACT AAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGA CCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGAT CCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGA TGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAAT CAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAG CCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACA AAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCC AGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACC AACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGAC CAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGG TCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGC CTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACA GGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATG CACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAAT TCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTC CTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGG GGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGC AGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGC AGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTG AGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGAT CCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTG CCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCC GGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTC AATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCACTTGGCCTAGGCTCAGGCAATTCTAGTGCCTCAGCCTCCACAGTAGCTG GGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAG CTTCCCAAAGTGCTGGGGTTGCAGGTGTGAGCCACTGCAGCTGGGCCCCAGTGATGTTTT AGTAGAATGAGTTTAGTAGAGGGCTACAGAAGGAGCTGAGGCAGGGAGAGAAGCAAGGTT GTAAAAAGGGCCTGATTGTCGGGATGTGTAGATGCTGAAGGGTCCTACCTGGTGCCTGGT TGGCTCTGGGGACGATGGGGGAGGGAAGGAGGAAGTGATGGACGTTTTGAGTCTGGGAAA AGAATACTTCATTAATAGAAATGGGAATGTCAGGAGGTGGTGCTGGTTGGACAGGAGATG AGAATCTTGGTTTTAGACATGGTAGTCTAGAGGGTCCATGTTCAGTGGGCTTTTGAATTT CAGTCCAGAACTTGATGGTGACAAATTGGAGCCTTTGGCAACCCTGACCACACATTTCAG CCAAGATGACGTGTTTCCTCTGGCCAGACCTGACTCAGCCCCACCCCCGACATAAAACAG GGACCTGAAACCTTCTGTCCCTGCCTTGGCCATGTTCCCTCATCGTCTCCTTTTCATCCT CTAGGTCCTCTGGACACAGACATGCAGCAGTTGGCCCGGGAGACCTCCGTGGACCCAGAC ATGCGAAAAGGGCTGCAGGAGCTGAAGGCAAAGGGGAAGCTGGTGGATTGCAAGGTGTCA GCCCAGAAACTGCTGAGCTTACTGGAAAAGGACGAGTTCAAGTCTGGAGCCCACGTGGAC TTCTATGACAAATAAGCCCATGTTTTTGGCTTCCTGAACCTTTTTGCCCCCACTTTTAGA CATACCCCAGAGCCCTGTGGCTCCCCACACCCTGCCATAGGGGCAGTCCTGCCTTACACA TAGAAGCATTCATGCCTGCTGCCCTGCCCTCAGGCACAGCCAGCTGTGAGCTCCCAGGTC ATTGGCCTTACCAGTTGTCAGGAGTCTGTGCTGTGCACCCTGGGTTATAAGGAGGCTTAG GAGAGAGGTTATGGGTATTGGTGTCTCTATCCCCAGGAATAGAACTTAAGGGGTGGGAAG AACAGGAAAAGAAGCTGGAACACAGAAGAGAGGAGGTTGTGTCTCTTGCTCATAGCAAGC CTGTGGGTAGAGGAAAGAGTGATCTGGTGTCGAATAGGAGGACCCATGTAGATTCGCAGA TGGCCTGGATGGGAGGAAGGGCAGACGGTACATGTCCCAGCCCACATAGATGCCCCTTGC TGAGGGTAGCAGGACCTTCTGTTGAACTTTGTGTCCTCACTCTGATGTCTCCTTCCTTCA GAATCTACCACCCCTCCCCCAGGCTGGGAGAAGGGGCTCCTGGGTGTCTGTATACACGCC AAAGGCAGATACAAATAAAATACAGATTGTCCTTTCTT OMIM ID 182125