Disease-gene associations mined from literature

Literature associating L1CAM and MASA syndrome

L1CAM [ENSP00000359077]

Neural cell adhesion molecule L1; Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity; CD molecules

Synonyms:  L1CAM,  L1CAMp,  hL1CAM,  E7EMY4,  E7EPI4 ...

Linkouts:  STRING  Pharos  UniProt