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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 4747 Official gene symbol NEFL Full name neurofilament, light polypeptide Aliases ,CMT1F,CMT2E,FLJ53642,NF-L,NF68,NFL, Gene summary Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq] Location Chromosome: 8   Locus: 8p21 Gene position 24814131 - 24808468  Map Viewer Gene orientation minus Gene size 5664 bp Gene sequence >NEFL:complement(12666614..12672277):Length=5664 GAGCCGCACACAGCCATCCATCCTCCCCCTTCCCTCTCTCCCCTGTCCTCTCTCTCCGGG CTCCCACCGCCGCCGCGGGCCGGGGAGCCACCGGCCGCCACCATGAGTTCCTTCAGCTAC GAGCCGTACTACTCGACCTCCTACAAGCGGCGCTACGTGGAGACGCCCCGGGTGCACATC TCCAGCGTGCGCAGCGGCTACAGCACCGCACGCTCAGCTTACTCCAGCTACTCGGCGCCG GTGTCTTCCTCGCTGTCCGTGCGCCGCAGCTACTCCTCCAGCTCTGGATCGTTGATGCCC AGTCTGGAGAACCTCGACCTGAGCCAGGTAGCCGCCATCAGCAACGACCTCAAGTCCATC CGCACGCAGGAGAAGGCGCAGCTCCAGGACCTCAATGACCGCTTCGCCAGCTTCATCGAG CGCGTGCACGAGCTGGAGCAGCAGAACAAGGTCCTGGAAGCCGAGCTGCTGGTGCTGCGC CAGAAGCACTCCGAGCCATCCCGCTTCCGGGCGCTGTACGAGCAGGAGATCCGCGACCTG CGCCTGGCGGCGGAAGATGCCACCAACGAGAAGCAGGCGCTCCAGGGCGAGCGCGAAGGG CTGGAGGAGACCCTGCGCAACCTGCAGGCGCGCTATGAAGAGGAGGTGCTGAGCCGCGAG GACGCCGAGGGCCGGCTGATGGAAGCGCGCAAAGGCGCCGACGAGGCGGCGCTCGCTCGC GCCGAGCTCGAGAAGCGCATCGACAGCTTGATGGACGAAATCTCTTTTCTGAAGAAAGTG CACGAAGAGGAGATCGCCGAACTGCAGGCGCAGATCCAGTACGCGCAGATCTCCGTGGAG ATGGACGTGACCAAGCCCGACCTTTCCGCCGCGCTCAAGGACATCCGCGCGCAGTACGAG AAGCTGGCCGCCAAGAACATGCAGAACGCTGAGGAATGGTTCAAGAGCCGCTTCACCGTG CTGACCGAGAGCGCCGCCAAGAACACCGACGCCGTGCGCGCCGCCAAGGACGAGGTGTCC GAGAGCCGTCGTCTGCTCAAGGCCAAGACCCTGGAAATCGAAGCATGCCGGGGCATGAAT GAAGCGCTGGAGAAGCAGCTGCAGGAGCTGGAGGACAAGCAGAACGCCGACATCAGCGCT ATGCAGGTGCGGCACGGCCAGAAACACAGGGGGGCGGGGGACTCGAGCAAGGGGGGGAGT TGGTGCGCCCAGAAAGTGGAGACCAGGGGTGGTGCGGCTGCACGCAGCTCTTAGGGATAG GGCTTGGCTCCTTGGCCACTGTGTGGGAGGGGTGGGGCACTTGAAGGGCGTGAGTGCGGG CGCCACTGTAGTCTGGGAGTGTGCTCCGTGCTGCTGCACCGGCGTTCCGCATTAAAGCTG CCCAGCCCTTGTTGGGTGGGGGAGGGGAAGACGTGGGAATTGGGCGTTGCCTCCGGCCTG CAGTGAGATCAGCTCTCTACTGACCTGCATTAACCACAAGTTACTTTGCAGCAACTATCG GATCATCTAGTTAATAAATAGTAGAGTGAACAACTCTCAATTAATTCTGAAGGATTACTG TGACCAGCATGCTTTATGACTAGTTTTACCAACCACTCCCTTCCTTTATTTAGTAGGTAG ACAGGAAAATAGTCAACATTGTTTTAGGTAGTTAACTAGTGATGTTCATAGTAAACCATT TCCTTTTACCTTTTTTTTTTCTTTTTTTCTTTATGTGTAAAATCTTCTACAACATTTCTG TTTAAACATCTCCATCTTCTGGGGAGTAGAAAAAATACAATTTTAAAAAGATCTCCATTT TAAAACATCTCCATCTTCTGGGGAGTAGAAATTTTTTTCTTCTTCTGGGGAGTAGAAAAA ATAATTTAGATACATAGGAAATATTTCATAGAAAATAATTTTTTTCTTTTTTTTGTTTAC ATCTGGCTATTTTCTTCTCATAAAGAAAGGCATTAGTTTCCTGGCATGTAACCCAGCTAA AGAAGAGTTAATCAGTGAATGAGAGACACAGTTTTTCTATCAACTTAGTCTGTTTGCATG CATTTTATGATGATCATTAAACAGTATTAAGTAAAGAAACAGAAGAACAGAATTTTCGTC CATCTTTTTTTTCATCTCAGGCTTCATGAACTTGGGTATTTTAGGCATGAAGGTTTTTCA AAAGATACAGGAAGTTATTCTAGGAGAGATTTTATCAAAGGTGTGCACCTTGATTTTAAT CGAAACTAGGCCTTTGCAACTACACTACAGTAAAATAATAGAAGGGATTTATGCTCGGAT TTTTTTTTTGTTTTATTTTTGTCTTCAAACAGGACACGATCAACAAATTAGAAAATGAAT TGAGGACCACAAAGAGTGAAATGGCACGATACCTAAAAGAATACCAAGACCTCCTCAACG TGAAGATGGCTTTGGATATTGAGATTGCAGCTTACAGGTGAAAATAGAGGGGCAAAGACA GCAGCCATTAAACCTTAGGAAGAAAATCAGATCCCATTTAAAGTTATGTTGGATCAGAAA CCTTCAATAATAGTCCTTTTGAAATAATGAAGTGTTAGTTTTTGGCTTCTTCCAAGAAGA GGGTATTTAGATATATAAGAATTTAACCCTGTAATTAGGAGTCCTGTTTTTATCTTGTCA TTACACTTTAAATCTAATAGGATGATTTATTTATATTTTTTCTGGTCTCCATCAAAAGAT CCCCAGGCATTAAGTATTGATAAATCCCAGCCCTGCTCCTGCTTGCCTTTGTGTTTAGGG TACTCAGAGCAAGTTGTGAAACACAGGTGTTTTTTAACCTCACCTTGCATCTGCATCCCC AGGAAACTCTTGGAAGGCGAGGAGACCCGACTCAGTTTCACCAGCGTGGGAAGCATAACC AGTGGCTACTCCCAGAGCTCCCAGGTCTTTGGCCGATCTGCCTACGGCGGTTTACAGACC AGCTCCTATCTGATGTCCACCCGCTCCTTCCCGTCCTACTACACCAGCCATGTCCAAGAG GAGCAGATCGAAGTGGAGGAAACCATTGAGGCTGCCAAGGCTGAGGAAGCCAAGGATGAG CCCCCCCTCTGAAGGAGAAGCCGAGGAGGAGGAGAAGGACAAGGAAGAGGCCGAGGAAGA GGAGGCAGCTGAAGAGGAAGAAGGTATGATAAGAAAAAACCCCTGCAACTTCAAGTGTAA ACTGGGTGTGGAGATTTGTTAGGAGGTGGATAAGACAAATGAAGCCTTGCTCATTTATTC ATATATGACATTAGAATCATAAATAAATTTTCTGTTTGTTTAGCAAAACTTTCCTAAGGC ATCTACTCTGAATGAGGTGATTGGTCAAAATTTTCATTTTTTAATATAATCATTTAACAC AGCAGGTTGGTGTCCTAAAGAACAAAAATAGATACCAGACACATAATGAAAGAAATATTG AGGTTAAGTCTTGGAGAGGAGCAGAGCTTCCCATACCTAGAAGTGATCTCATTCGATTTA AATATGTGTTCAGTGGCAAATTATTCATGGCAAGCTTTGTCTGTTACATGTGCTTTTGGA GAGAGTGGAGCTGGGAGGTTTTGGTAGCATTCTGACAGTTGTGTTTGCAAATAAAACCTT TGCAGACATGTTTTGACTGGACTTACCCTGGATTTGCATTTTGTACATTTTCTTTTTATG TTAAAGCTGCCAAGGAAGAGTCTGAAGAAGCAAAAGAAGAAGAAGAAGGAGGTGAAGGTG AAGAAGGAGAGGAAACCAAAGAAGCTGAAGAGGAGGAGAAGAAAGTTGAAGGTGCTGGGG AGGAACAAGCAGCTAAGAAGAAAGATTGAACCCCCATTTCCTTAATTATTTCAGGAATAA TTCTCCCGAAATCAGGTCAACCCCATCACCAACCAACCAACCAGTTGAGTTCCAGATTCT ATGTGAATTAAAAAGTCAATATATGTATAATTCTGAGATGACTTAGGTTGGACATTCAAT GTTGTGCTATGAATTTCCTCTTTATGCAGAGTATCTGTTTGCTTGCAGAGTGGCTTTCTG GCTTGCTGCCAGCCTGTGCATGGACCACGCTTATGAGTTCAGGATCTACGGCAATGTGAA TCATTCAGATGTTTACAATAAAAAACACCACATGAGTAAATGAATTCACTAATGTTAATG TTAAACTTCATGGAAAAATAGTCCTTTGAACCTTCGGTGGTTAGCAATTAAAGACCCTGA GTTATGTGCAATAAATAGTAAATAAAGTTATACCGAATGATGTATTTTTTGCTGTGGTTG TTACTTAATTAAAATACCTTAAAGATGGCACCAATATAAAGTATATACCAGTGGACTATT GACCTCCAATTTTTTAAAAAGTTGAAATTTTAACAATTACCAATACTTTTTTTTCTTCCT TCAATTGGAAATTCTGAGGGATACAGTTATGTCATGATTACTTGTGAAATCTCTCCCCAC AAAAATTTTACTGATAATAAACATGAGTAAATGAGAAAGTCTATAAATAACAATAGACTT TGCCTCATAACACGTGTTGTGTTAGGTTTTGGGATGGCTTTCTAGGGAGCAATTCTGAAA TTACTTGACAGATACACTCTTTATGGTAAACAGGTCATTTCAGAGTCTAGAGTGCTAACC ATTACACTATGGAACCATGATAAATAGGTCATTTCAAACTGATATGTCACAATGCAATAT GGATAGAATATGAATCCCATACATTCATCCCTATAACTGCATTTTAAAATATAGTCTAAA TATCATGGGAGGAGGTTAAAACCTGAGAACATGGTACAATAAGAAGGAATAATTTTTTAT CTATATATAATTTCAGGAGAAGGGATTAAAACTACCAAAGGTTATTTGCCACTCCACTGC AAACATGTTGCCTGCAATCCTGAGCTCATGATTTAGTGTGTTGTTAAGCGTAATTCTGTT GCCTCAAGTAAATACCACTTAATGCTACACATTTTTAAACCTTTAAAAGCTACAGACACA AGTAATGAAATTATGAGTCACTTAAGGGGGGAGGTAATATGCTTGTATGTTACATTGACA TTGCTCTGCATGTCTCTACTGGGAGATATTTGGATTTCAATGATAGCTTGACTGGTTGGA CATTGCATCAAATACACGCCCCATGTATCCTTTCTGTCGTAAAGTTAAGAACGCTCTTGC ATTTGATGTGGAATAAATATAGATGATATTACTATCTGCTATTCTGCCTTTGTTCTGAAA CAATTGCTTTGTCAGCTAATTTCATTCAATATTTGTTTTTTAGACGATCTCTATAAGTTA TTAATTTAACCTGAAACCAAAGTGGTCTCCATTTAAAGTTACTTAATCCCTTTGTACCAC CTATTTCTAGTTAAATATATGTTGCTATGCAAATAGGTAAAGTGCTTCCTTGCCATGATG GTAATGGATTGGAACTATGAAGGCTCTCAGTGTATTGGCTTCTGTAAAGATGAGGCGTCT CCTCAGAAACAAAACTTTTCACATTTCTGCTTACTAGACCTGGGTTGATGTACATGGTAA GTCTCAAACAGATGCAAGCTATGTGCAAAAAGTAACTTTAGCCAAATGGAAATAGCTGGA TGCTTTGAGAATTACTTGGTTGAAGTAAGAAAACTGTACCATCCTCTATCCTGTGTGCCA TAATAAAATAGTAAAAAACCTAAA OMIM ID 162280