Disease:The deletion of 1 copy of the CHL1 may be responsible for mental defects in patients with 3p- syndrome. 3p- syndrome results from deletion of a terminal segment of the short arm of one chromosome 3 and is characterized by multiple congenital anomalies and mental retardation.,Domain:The DGEA motif seems to be a recognition site for integrin.,Domain:The FIG[AQ]Y motif seems to be an ankyrin recruitment region.,Function: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.,PTM:Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in vitro and is inhibited by metalloprotease inhibitors.,PTM:N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc).,PTM:O-glycosylated.,similarity:Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.,similarity:Contains 4 fibronectin type-III domains.,similarity:Contains 6 Ig-like C2-type (immunoglobulin-like) domains.,subcellular location:Soluble forms produced by cleavage/shedding also exist.,subunit:May interact with L1CAM. May interact with ITGB1/ITGA1 heterodimer and ITGB1/ITGA2 heterodimer as well as with ANK3.,tissue specificity:Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in adult peripheral tissues.,
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