PLXNA1
Function
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. Acts as coreceptor of TREM2 for SEMA6D in dendritic cells and is involved in the generation of immune responses and skeletal homeostasis.
Involvement in disease
Dworschak-Punetha neurodevelopmental syndrome
DWOPNED
An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder and hyperactivity. Additional variable additional features include optic disk hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, non-specific facial dysmorphism, and abnormalities of the ventricles or corpus callosum seen on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the plexin family.
Tissue Specificity
Detected in fetal brain, lung, liver and kidney.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
NOV, PLXN1, PLXNA1, Plexin-A1, Semaphorin receptor NOV