Gene: NRXN1

Alternate names for this Gene: Hs.22998|PTHSL2|SCZD17

Gene Summary: 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. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: neurexin 1

Type of Gene: protein-coding

Gene: LOC730100

Alternate names for this Gene:

Gene Summary:

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rs6750228 in NRXN1;LOC730100 gene and Albuminuria PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

rs7603103 in NRXN1;LOC730100 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.