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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NHLRC1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 378884 Official gene symbol NHLRC1 Full name NHL repeat containing 1 Aliases ,EPM2A,EPM2B,MALIN,MGC119262,MGC119264,MGC119265,bA204B7.2, Gene summary The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2). Location Chromosome: 6   Locus: 6p22.3 Gene position 18122851 - 18120718  Map Viewer Gene orientation minus Gene size 2134 bp Gene sequence >NHLRC1:complement(18060718..18062851):Length=2134 GCACAGGACGCGCCATGGCGGCCGAAGCCTCGGAGAGCGGGCCAGCGCTGCATGAGCTCA TGCGCGAGGCGGAGATCAGCCTGCTCGAGTGCAAGGTGTGCTTTGAGAAGTTTGGCCACC GGCAGCAGCGGCGCCCGCGCAACCTGTCCTGCGGCCACGTGGTCTGCCTGGCCTGCGTGG CCGCCCTGGCGCACCCGCGCACTCTGGCCCTCGAGTGCCCATTCTGCAGGCGAGCTTGCC GGGGCTGCGACACCAGCGACTGCCTGCCGGTGCTGCACCTCATAGAGCTCCTGGGCTCAG CGCTTCGCCAGTCCCCGGCCGCCCATCGCGCCGCCCCCAGCGCCCCCGGAGCCCTCACCT GCCACCACACCTTCGGCGGCTGGGGGACCCTGGTCAACCCCACCGGACTGGCGCTTTGTC CCAAGACGGGGCGTGTCGTGGTGGTGCACGACGGCAGGAGGCGTGTCAAGATTTTTGACT CAGGGGGAGGATGCGCGCATCAGTTTGGAGAGAAGGGGGACGCTGCCCAAGACATTAGGT ACCCTGTGGATGTCACCATCACCAACGACTGCCATGTGGTTGTCACTGACGCCGGCGATC GCTCCATCAAAGTGTTTGATTTTTTTGGCCAGATCAAGCTTGTCATTGGAGGCCAATTCT CCTTACCTTGGGGTGTGGAGACCACCCCTCAGAATGGGATTGTGGTAACTGATGCGGAGG CAGGGTCCCTGCACCTCCTGGACGTCGACTTCGCGGAAGGGGTCCTTCGGAGAACTGAAA GGTTGCAAGCTCATCTGTGCAATCCCCGAGGGGTGGCAGTGTCTTGGCTCACCGGGGCCA TTGCGGTCCTGGAGCACCCCCTGGCCCTGGGGACTGGGGTTTGCAGCACCAGGGTGAAAG TGTTTAGCTCAAGTATGCAGCTTGTCGGCCAAGTGGATACCTTTGGGCTGAGCCTCTACT TTCCCTCCAAAATAACTGCCTCCGCTGTGACCTTTGATCACCAGGGAAATGTGATTGTTG CAGATACATCTGGTCCAGCTATCCTTTGCTTAGGAAAACCTGAGGAGTTTCCAGTACCGA AGCCCATGGTCACTCATGGTCTTTCGCATCCTGTGGCTCTTACCTTCACCAAGGAGAATT CTCTTCTTGTGCTGGACACAGCATCTCATTCTATAAAAGTCTATAAAGTTGACTGGGGGT GATGGGCTGGGGTGGGTCCCTGGAATCAGAAGCACTAGTGCTGCCATTAATGAATTGTTT AACCCTGGATAAGTCACTTAAACTCATCTATCCAGGCAGGGATAATTAAAACCATCTGGC AGACTTACAAAGCTTGGGACAGTTATTGGAGATTAATCTACCATTTATTGAATGCATACT CTGTGCAAGGAAATTTGCAAATATTAGCTTATTTAATCTGTACTATCCAGTGAGGTAATT TCTTCCCCCCCAAGATAGAGTCAAGCTCTGTCACCCAGGCTGGAGTGCAGAAGCATGATC ACAGCTCACTACAGTTTCAACGTCCCCCGCTCAGGTGGTCCTTCCACCTCAGCCTCCCAA GTAGCTGGGACCACAAGTGTGCATTACCACACTCAGCTAATTTTTGTATTTTGGCAGAGA TGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCAATCCACCTT CCTCGGCCTCCCAAAGTACTAGGAGTACAGGCATAGCCACTTGCTCAGCCATAATTTTTA TTATTAATCTCATTGTACAAGTGAGAAAACTGAGACCCAGAGAGCTTAAGTGACTTCCTC GAGGTCATAGTTACTTACTGCCTTAGTCCCAATTTGAATTCAATTCTGATTCCAAATAAG TTGCGCTTAAATAAGACAACAGATGTGGGAAAAATATGTGAATGTGTAGTGTTGCTATGT GTACTGTCTTTACAAGTAGCTAATTATTTTAGCACAAAGATGTGCAAAGAAAGGAGACTT TATGGAGAGTTCAGGAGAAAAAGGATTTTGTGGTGGCCATCACTTTCATTCAATTTGCGA CTGCTCTGATGGCACATTAGATGAAGTTACTGTTGATCCTGAGTTACGTGAATAAGAAAA ACAATTGAACTGCTTATTAAAAAAGTAAACATGT OMIM ID 608072