NIPA1
Homo sapiens
Gene Name: non imprinted in Prader-Willi/Angelman syndrome 1
Aliases: FSP3, SPG6
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Rare single gene variant-Multigenic CNV
Aliases: FSP3, SPG6
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Rare single gene variant-Multigenic CNV
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 13
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare NIPA1 deletion was found in a patient with PDD-NOS and mild intellectual disability (Leblond et al., 2012).
Molecular Function
This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Support
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Spastic paraplegia-6
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
ASD
Support
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.
Spastic paraplegia-6
