DISEASES

Disease-gene associations mined from literature

Literature associating PLXNA1 and Dubowitz syndrome

PLXNA1 [ENSP00000377061]

Semaphorin receptor NOV; Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. 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 (By similarity).

Synonyms:  PLXNA1,  PLXNA1p,  hPLXNA1,  B3KY38,  B4DE20 ...

Linkouts:  STRING  Pharos  UniProt  OMIM