NXPH1
Homo sapiens
Gene Name: neurexophilin 1
Aliases: Nbla00697, NPH1
Chromosome No: 7
Chromosome Band: 7p21.3
Genetic Category: Rare Single Gene variant-Rare single gene variant/multigenic CNV-Multigenic CNV
Aliases: Nbla00697, NPH1
Chromosome No: 7
Chromosome Band: 7p21.3
Genetic Category: Rare Single Gene variant-Rare single gene variant/multigenic CNV-Multigenic CNV
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 8
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare duplication in the NXPH1 gene has been identified with ASD (Salyakina et al., 2011).
Molecular Function
This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
ASD
ID
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD