NRXN1 wt Allele

Preferred Label : NRXN1 wt Allele;

NCIt synonyms : KIAA0578; DKFZp313P2036; Neurexin 1 wt Allele; FLJ35941; Hs.22998; PTHSL2; SCZD17;

NCIt definition : Human NRXN1 wild-type allele is located in the vicinity of 2p16.3 and is approximately 1112 kb in length. This allele, which encodes neurexin-1-alpha protein and neurexin-1-beta protein, plays a role in the mediation of both cellular adhesion and signal transduction. Mutations in the gene may be associated with autism and copy number variation has been observed in patients with schizophrenia.;

GenBank Accession Number : AB011150;

Details

Origin ID

C82880;

UMLS CUI

C2826553;

Automatic exact mappings (from CISMeF team)
- Chromosome 2p16.3 deletion syndrome [OMIM Phenotype]
- Pitt-Hopkins-like syndrome 2 [DO Concept]
- Pitt-hopkins-like syndrome 2 [OMIM Phenotype]
- neurexin 1 [ORDO Gene]
OMIM relation
- Neurexin I [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Schizophrenia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p16.3 [NCIt concept]
gene_is_element_in_pathway
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Calcium Binding [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neural Development [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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