DISEASES

Disease-gene associations mined from literature

Literature associating DSCAML1 and Down syndrome

DSCAML1 [ENSP00000315465]

Down syndrome cell adhesion molecule-like protein 1; Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity); Fibronectin type III domain containing

Synonyms:  DSCAML1,  DSCAML1p,  hDSCAML1,  E9PP71,  G3V1B5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM