DISEASES

Disease-gene associations mined from literature

Literature associating DSCAM and Hirschsprung's disease

DSCAM [ENSP00000383303]

Down syndrome cell adhesion molecule; 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. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self- avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies . Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collaborate with UNC5C in NTN1- mediated axon repulsion independently of DCC (By similarity). In spinal cord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding . Enhances netrin-induced phosphorylation of PAK1 and FYN . Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 . 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). ECO:0000250|UniProtKB:Q9ERC8, ECO:0000269|PubMed:10925149, ECO:0000269|PubMed:15169762, ECO:0000269|PubMed:18585357,

Synonyms:  DSCAM,  A0A087WUI7,  O60469,  Q8WY19,  O60469p ...

Linkouts:  STRING  Pharos  UniProt  OMIM