Neural cell adhesion molecule L1
| Cell adhesion molecule L1 | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 1257 aa | |
| Identifier | ||
| Gene names | L1CAM , MIC5 | |
| External IDs | ||
The neural cell adhesion molecule L1 (Engl. Neural cell adhesion molecule L1 , short- NCAM-L1 ) is a transmembrane and glycoprotein . It is encoded by the L1CAM gene , which is located on the X chromosome (Xq28) in humans. L1CAM is mainly produced in nerve cells and Schwann cells and probably plays an important role in the development of the central nervous system .
Several mutations in the L1CAM gene are known. They can lead to several allelic diseases :
- Subtype of hereditary spastic paraplegia : X-linked recessive spastic paraplegia type 1 (SPG1) , MASA syndrome .
- X-linked hydrocephalus (HSAS)
- CRASH syndrome
Individual evidence
- ^ A b S. Salinas, C. Proukakis, A. Crosby, TT Warner: Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. In: The Lancet Neurology . Volume 7, Number 12, December 2008, pp. 1127-1138, ISSN 1474-4422 . doi : 10.1016 / S1474-4422 (08) 70258-8 . PMID 19007737 . (Review).
- ↑ L1CAM. In: Online Mendelian Inheritance in Man . (English), last accessed on October 4, 2011