Relevance to Autism

A homozygous deletion adjacent to the UNC5D gene that overlapped with a non-coding epigenetic mark was identified in an ASD proband born to consanguineous parents from the HMCA cohort (Schmitz-Abe et al., 2020). A region of homozygosity (ROH) segment overlapping the UNC5D gene had previously been identified in four ASD probands from the Simons Simplex Collection and no unaffected siblings (Gamsiz et al. 2013), and rare inherited intergenic deletions upstream of UNC5D that overlapped a human expressed sequence tag (EST) had previously been observed in four unrelated ASD probands in Walker and Scherer, 2013.

Molecular Function

Receptor for the netrin NTN4 that promotes neuronal cell survival. Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. May play a role in apoptosis in response to DNA damage. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Mediates cell-cell adhesion via its interaction with FLRT3 on an adjacent cell.

External Links

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