DISEASES

Disease-gene associations mined from literature

Literature associating PLXNA3 and Rett syndrome

PLXNA3 [ENSP00000358696]

Plexin-A3; Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm.

Synonyms:  PLXNA3,  PLXNA3p,  hPLXNA3,  P51805,  P51805p ...

Linkouts:  STRING  Pharos  UniProt  OMIM