DISEASES

Disease-gene associations mined from literature

Literature associating CHL1 and congenital disorder of glycosylation type IIb

CHL1 [ENSP00000256509]

Processed neural cell adhesion molecule L1-like protein; Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity).

Synonyms:  CHL1,  CHL1p,  hCHL1,  A0A087X0M8,  C9J905 ...

Linkouts:  STRING  Pharos  UniProt  OMIM