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NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1

Also known as: FSP3; SPG6

Summary

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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DescriptionTests
Spastic paraplegia 6
MedGen: C1838192OMIM: 600363GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Haploinsufficency

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

ClinGen Genome Curation Page
Triplosensitivity

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

ClinGen Genome Curation Page

Genomic context

Location:
15q11.2
Sequence:
Chromosome: 15; NC_000015.10 (22786225..22829789)
Total number of exons:
6

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