Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1)

NIPA1 encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6. The N-terminal polyalanine sequence in mouse is encoded by a (GCG)3-GCT-(GCG)3 sequence, and the transcript has 2 polyadenylation signals. Northern blot analysis detected transcripts of 1.9 and 7.5 kb in all mouse tissues examined, with enrichment in brain.