NEFL, neurofilament light

NEFL, neurofilament light

• 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]

• Gene Synonyms (CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110, neurofilament light polypeptide, light molecular weight neurofilament protein, neurofilament protein, light chain, neurofilament subunit NF-L, neurofilament triplet L protein, neurofilament, light polypeptide 68kDa, protein phosphatase 1, regulatory subunit 110,)
• NCBI Gene ID: 4747
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P07196
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

neurofilament light interacts with:

• BICD cargo adaptor 2
  bromodomain containing 7
  CDK5 regulatory subunit associated protein 2
  cell division cycle 14A
  centrosomal protein 57 like 1
  chromosome 16 open reading frame 70
  coiled-coil domain containing 13
  coiled-coil domain containing 172
  coiled-coil domain containing 33
  coiled-coil domain containing 8
  dipeptidyl peptidase 9
  enkurin domain containing 1
  family with sequence similarity 83 member H
  gigaxonin
  golgi reassembly stacking protein 1
  hepatocyte growth factor-regulated tyrosine kinase substrate
  kinesin light chain 3
  lysine demethylase 1A
  microtubule associated scaffold protein 2
  mitochondrial ribosomal protein L4
  myosin XVB
  myotubularin related protein 2
  neurofilament light
  NIMA related kinase 6
  NME/NM23 family member 7
  obscurin like cytoskeletal adaptor 1
  parkin RBR E3 ubiquitin protein ligase
  phosphodiesterase 4D interacting protein
  pregnancy specific beta-1-glycoprotein 9
  proteasome 26S subunit, non-ATPase 14
  protein arginine methyltransferase 6
  protein inhibitor of activated STAT 4
  protein kinase N1
  protein phosphatase 1 catalytic subunit gamma
  protein phosphatase 1 regulatory subunit 16B
  protein phosphatase 1 regulatory subunit 18
  rabaptin, RAB GTPase binding effector protein 1
  regulator of MON1-CCZ1
  ring finger and SPRY domain containing 1
  SEC16 homolog A, endoplasmic reticulum export factor
  SET and MYND domain containing 1
  sirtuin 7
  SKI like proto-oncogene
  spectrin alpha, non-erythrocytic 1
  src kinase associated phosphoprotein 1
  SUZ12 polycomb repressive complex 2 subunit
  syncoilin, intermediate filament protein
  taxilin beta
  telomeric repeat binding factor 1
  testis expressed 11
  TNFAIP3 interacting protein 2
  TSC complex subunit 1
  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
  ubiquitin specific peptidase 2
  USH1 protein network component harmonin binding protein 1
  vimentin

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.