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NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1

Also known as: FSP3; SPG6


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. [provided by RefSeq, Nov 2008]

Associated conditions

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Spastic paraplegia 6
MedGen: C1838192OMIM: 600363GeneReviews: Not available
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Copy number response

Copy number response

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page

Genomic context

Chromosome: 15; NC_000015.10 (22786225..22829789)
Total number of exons:


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