Biology:NFASC

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Neurofascin is a protein that in humans is encoded by the NFASC gene.[1][2][3]

Function

Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development.[3][4]

Clinical importance

A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain.[5]

References

  1. "Structure of the axonal surface recognition molecule neurofascin and its relationship to a neural subgroup of the immunoglobulin superfamily". The Journal of Cell Biology 118 (1): 149–61. July 1992. doi:10.1083/jcb.118.1.149. PMID 1377696. 
  2. "Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes". Mammalian Genome 7 (7): 558–9. July 1996. doi:10.1007/s003359900168. PMID 8672144. 
  3. 3.0 3.1 "Entrez Gene: NFASC neurofascin homolog (chicken)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23114. 
  4. "Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment". Cell 119 (2): 257–72. October 2004. doi:10.1016/j.cell.2004.10.004. PMID 15479642. 
  5. "Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia". Human Molecular Genetics 27 (21): 3669–3674. August 2018. doi:10.1093/hmg/ddy277. PMID 30124836. 

Further reading