DISEASES

Disease-gene associations mined from literature

Literature associating SEMA5A and familial adult myoclonic epilepsy 5

SEMA5A [ENSP00000371936]

Semaphorin-5A; Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. May promote angiogenesis by increasing endothelial cell proliferation and migration and inhibiting apoptosis; Semaphorins

Synonyms:  SEMA5A,  SEMA5Ap,  hSEMA5A,  B4DE33,  D6R9K6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM