NRP1

Neuropilin-1 functions as a co-receptor that binds vascular endothelial growth factor (VEGF) and semaphorin family members to control cell migration, survival, and attraction during development. Mutations cause congenital insensitivity to pain with anhidrosis through an autosomal recessive inheritance pattern, affecting the peripheral nervous system and sweat gland function. This gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating that heterozygous loss-of-function mutations are likely to be pathogenic.