- OMIM: 308 840
- UniProt: P32004
The neural cell adhesion molecule L1 (English Neural cell adhesion molecule L1, short NCAM -L1 ) is a transmembrane glycoprotein and. It is encoded by the L1CAM gene which is localized in humans on the X chromosome ( Xq28 ). L1CAM is mainly formed in the neurons and Schwann cells, and may play an important role in the development of the central nervous system.
Several mutations of the L1CAM gene are known. They can lead to several allelic disorders:
- Subtype of hereditary spastic paraplegia: X- chromosomal recessive hereditary spastic paraplegia 1 ( SPG1, MASA syndrome).
- X-linked hydrocephalus bound ( HSAS )
- Crash Syndrome