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. [provided by RefSeq, Nov 2008]

Description

non imprinted in Prader-Willi/Angelman syndrome 1

Protein family

Membrane proteins predicted by MDM, Secreted proteins predicted by MDSP, Transporters

Chromosome

15:q11.2 (23043277 - 23100005)

Ensembl ID

ENSG00000170113  (ver. 69.37)

Orthologs

Mouse Nipa1: ENSMUSG00000047037

Human splice variants
Mouse splice variants