NIPA1 Back

non imprinted in Prader-Willi/Angelman syndrome 1

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NCBI Description of NIPA1
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

NIPA1 is highly significantly mutated in
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NIPA1 is significantly mutated in
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NIPA1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for NIPA1