Neurexin I

Alternative Names

  • NRXN1
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OMIM Number

600565

NCBI Gene ID

9378

Uniprot ID

Q9ULB1

Length

1,307,073 bases

No. of Exons

27

No. of isoforms

3

Protein Name

Neurexin-1

Molecular Mass

161883 Da

Amino Acid Count

1477

Genomic Location

chr2:49,918,503-51,225,575

Gene Map Locus
2p16.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004801.5:c.1835A>GUnited Arab EmiratesNC_000002.12:g.50538561T>CLikely BenignNG_011878.1:g.498976A>G; NM_004801.5:c.1835A>G; NP_004792.1:p.Glu612Gly
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