| Gene Name | NEFL |
|
| Specie | Homo sapiens | |
| Full Name | neurofilament light chain | |
| Also known as | CMT1F|CMT2E|CMTDIG|NF-L|NF68|NFL|PPP1R110 | |
| Coordinate | chr8:24950955-24956612 | |
| Strand | - | |
| 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, Oct 2008] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| NEFLP1 | chrY:21220695-21221451 | - |
Intergenic |
ENSG00000232634 | UCSC |
| >NM_006158.5 |
| GCACACAGCCAtccatcctcccccttccctctctcccctgtcctctctctccgggctcccaccgccGCCGCGGGCCGGGGAGCCACCGGCCGCCACCATGAGTTCCTTCAGCTACGAGCCGTACTACTCGACCTCCTACAAGCGGCGCTACGTGGAGACGCCCCGGGTGCACATCTCCAGCGTGCGCAGCGGCTACAGCACCGCACGCTCAGCTTACTCCAGCTACTCGGCGCCGGTGTCTTCCTCGCTGTCCGTGCGCCGCAGCTACTCCTCCAGCTCTGGATCGTTGATGCCCAGTCTGGAGAACCTCGACCTGAGCCAGGTAGCCGCCATCAGCAACGACCTCAAGTCCATCCGCACGCAGGAGAAGGCGCAGCTCCAGGACCTCAATGACCGCTTCGCCAGCTTCATCGAGCGCGTGCACGAGCTGGAGCAGCAGAACAAGGTCCTGGAAGCCGAGCTGCTGGTGCTGCGCCAGAAGCACTCCGAGCCATCCCGCTTCCGGGCGCTGTACGAGCAGGAGATCCGCGACCTGCGCCTGGCGGCGGAAGATGCCACCAACGAGAAGCAGGCGCTCCAGGGCGAGCGCGAAGGGCTGGAGGAGACCCTGCGCAACCTGCAGGCGCGCTATGAAGAGGAGGTGCTGAGCCGCGAGGACGCCGAGGGCCGGCTGATGGAAGCGCGCAAAGGCGCCGACGAGGCGGCGCTCGCTCGCGCCGAGCTCGAGAAGCGCATCGACAGCTTGATGGACGAAATCTCTTTTCTGAAGAAAGTGCACGAAGAGGAGATCGCCGAACTGCAGGCGCAGATCCAGTACGCGCAGATCTCCGTGGAGATGGACGTGACCAAGCCCGACCTTTCCGCCGCGCTCAAGGACATCCGCGCGCAGTACGAGAAGCTGGCCGCCAAGAACATGCAGAACGCTGAGGAATGGTTCAAGAGCCGCTTCACCGTGCTGACCGAGAGCGCCGCCAAGAACACCGACGCCGTGCGCGCCGCCAAGGACGAGGTGTCCGAGAGCCGTCGTCTGCTCAAGGCCAAGACCCTGGAAATCGAAGCATGCCGGGGCATGAATGAAGCGCTGGAGAAGCAGCTGCAGGAGCTGGAGGACAAGCAGAACGCCGACATCAGCGCTATGCAGGACACGATCAACAAATTAGAAAATGAATTGAGGACCACAAAGAGTGAAATGGCACGATACCTAAAAGAATACCAAGACCTCCTCAACGTGAAGATGGCTTTGGATATTGAGATTGCAGCTTACAGGAAACTCTTGGAAGGCGAGGAGACCCGACTCAGTTTCACCAGCGTGGGAAGCATAACCAGTGGCTACTCCCAGAGCTCCCAGGTCTTTGGCCGATCTGCCTACGGCGGTTTACAGACCAGCTCCTATCTGATGTCCACCCGCTCCTTCCCGTCCTACTACACCAGCCATGTCCAAGAGGAGCAGATCGAAGTGGAGGAAACCATTGAGGCTGCCAAGGCTGAGGAAGCCAAGGATGAGCCCCCCTCTgaaggagaagccgaggaggaggagaaggacaaggaagaggccgaggaagaggaggcagctgaagaggaagaAGCTGCCAAGGAAGAGTCTgaagaagcaaaagaagaagaagaaggaggtgaaggtgaagaaggagaggaaaccaaagaagctgaagaggaggagaagaaagttgaaggtgctggggaggaacaagcagctaagaagaaAGATTGAACCCCCATTTCCTTAATTATTTCAGGAATAATTCTCCCGAAATCAGGTCAACCCCATCACCAACCAACCAACCAGTTGAGTTCCAGATTCTATGTGAATTAAAAAGTCAATATATGTATAATTCTGAGATGACTTAGGTTGGACATTCAATGTTGTGCTATGAATTTCCTCTTTATGCAGAGTATCTGTTTGCTTGCAGAGTGGCTTTCTGGCTTGCTGCCAGCCTGTGCATGGACCACGCTTATGAGTTCAGGATCTACGGCAATGTGAATCATTCAGATGTTTACAATAAAAAACACCACATGAGTAAATGAATTCACTAATGTTAATGTTAAACTTCATGGAAAAATAGTCCTTTGAACCTTCGGTGGTTAGCAATTAAAGACCCTGAGTTATGTGCAATAAATAGTAAATAAAGTTATACCGAATGATGTATTTTTTGCTGTGGTTGTTACTTAATTAAAATACCTTAAAGATGGCACCAATATAAAGTATATACCAGTGGACTATTGACCTCCAATTTTTTAAAAAGTTGAAATTTTAACAATTACCAATACTTTTTTTTCTTCCTTCAATTGGAAATTCTGAGGGATACAGTTATGTCATGATTACTTGTGAAATCTCTCCCCACAAAAATTTTACTGATAATAAACATGAGTAAATGAGAAAGTCTATAAATAACAATAGACTTTGCCTCATAACACGTGTTGTGTTAGGTTTTGGGATGGCTTTCTAGGGAGCAATTCTGAAATTACTTGACAGATACACTCTTTATGGTAAACAGGTCATttcagagtctagagtgctaaccattacactatggaaccATGATAAATAGGTCATTTCAAACTGATATGTCACAATGCAATATGGATAGAATATGAATCCCATACATTCATCCCTATAACTGCATTTTAAAATATAGTCTAAATATCATGGGAGGAGGTTAAAACCTGAGAACATGGTACAATAAGAAGGAATAATTTTTTATCTATATATAATTTCAGGAGAAGGGATTAAAACTACCAAAGGTTATTTGCCACTCCACTGCAAACATGTTGCCTGCAATCCTGAGCTCATGATTTAGTGTGTTGTTAAGCGTAATTCTGTTGCCTCAAGTAAATACCACTTAATGCTACACATTTTTAAACCTTTAAAAGCTACAGACACAAGTAATGAAATTATGAGTCACTTAAGGGGGGAGGTAATATGCTTGTATGTTACATTGACATTGCTCTGCATGTCTCTACTGGGAGATATTTGGATTTCAATGATAGCTTGACTGGTTGGACATTGCATCAAATACACGCCCCATGTATCCTTTCTGTCGTAAAGTTAAGAACGCTCTTGCATTTGATGTGGAATAAATATAGATGATATTACTATCTGCTATTCTGCCTTTGTTCTGAAACAATTGCTTTGTCAGCTAATTTCATTCAATATTTGTTTTTTAGACGATCTCTATAAGTTATTAATTTAACCTGAAACCAAAGTGGTCTCCATTTAAAGTTACTTAATCCCTTTGTACCACCTATTTCTAGTTAAATATATGTTGCTATGCAAATAGGTAAAGTGCTTCCTTGCCATGATGGTAATGGATTGGAACTATGAAGGCTCTCAGTGTATTGGCTTCTGTAAAGATGAGGCGTCTCCTCAGAAACAAAACTTTTCACATTTCTGCTTACTAGACCTGGGTTGATGTACATGGTAAGTCTCAAACAGATGCAAGCTATGTGCAAAAAGTAACTTTAGCCAAATGGAAATAGCTGGATGCTTTGAGAATTACTTGGTTGAAGTAAGAAAACTGTACCATCCTCTATCCTGTGTGCCATAATAAAATAGTAAAAAACCTAAA |