CD171; neural cell adhesion molecule L1; N-CAM L1 (L1CAM, CAML1, MIC5)
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Function
- cell adhesion molecule
- role in the development of the nervous system
- involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
- binds to axonin on neurons
Structure
- belongs to the immunoglobulin superfamily L1/neurofascin/NgCAM family
- contains 5 fibronectin F3 modules
- contains 6 Ig-like C2-type domains (immunoglobulin-like)
Compartment
Alternative splicing
named isoforms=2
Expression
expressed mainly on neurons
Pathology
- defects in L1CAM are the cause of:
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P32004.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/L1CAMID44110chXq28.html
- ↑ L1CAM; L1CAM mutation Web Page http://www.rug.nl/umcg/faculteit/disciplinegroepen/medischegenetica/hereditarydiseases/L1cam/index
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=L1CAM
- ↑ OMIM https://mirror.omim.org/entry/308840
- ↑ Schachner M, Martini R. Glycans and the modulation of neural-recognition molecule function. Trends Neurosci. 1995 Apr;18(4):183-91. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7539963
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3897
Database
- UniProt: http://www.uniprot.org/uniprot/P32004.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3897
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3897
- OMIM: https://mirror.omim.org/entry/142623
- OMIM: https://mirror.omim.org/entry/303350
- OMIM: https://mirror.omim.org/entry/304100
- OMIM: https://mirror.omim.org/entry/307000
- OMIM: https://mirror.omim.org/entry/308840