This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission, and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. The RefSeq project has decided to create only a few representative transcript variants of the multitude that are possible. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2.
應用類型
WB
免疫原
Recombinant fusion protein of human NRXN1(NP_001129131.1).
