protein
Cell adhesion molecule DSCAM
Gene
DSCAM
Organism
Homo sapiens(9606)
Length
2012 aa
Mass
222,260 Da
# Summary
DSCAM (cell adhesion molecule DSCAM) is a 2012 amino acid protein that functions as a cell adhesion molecule mediating neuronal self-avoidance and axon guidance (UniProt: O60469). It promotes repulsion between neuronal processes to establish orderly dendritic arborization and mosaic spacing in retinal amacrine and ganglion cells. The protein also acts as a netrin receptor for axon guidance, particularly in commissural axon pathfinding during spinal cord development, and mediates intracellular signaling through MAPK8 and p38 kinase activation.
DSCAM is expressed in specific subsets of interneurons and retinal ganglion cells, where it promotes lamina-specific synaptic connections via homophilic interactions. Its roles in axon guidance and neuronal connectivity establish it as an important factor in neural circuit development and organization.
DSCAM is classified as SFARI Category 1, indicating it has strong evidence as an autism spectrum disorder risk gene (SFARI Cat 1). This classification underscores the relevance of its developmental neurobiological functions to neurodevelopmental pathways implicated in autism.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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 (PubMed:10925149). 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 (PubMed:18585357, PubMed:19196994). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). 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)
Sources
Last updated 5/6/2026, 5:25:39 AM