Aliases for NIPA1 Gene
External Ids for NIPA1 Gene
Previous HGNC Symbols for NIPA1 Gene
Previous GeneCards Identifiers for NIPA1 Gene
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]
GeneCards Summary for NIPA1 Gene
NIPA1 (Non Imprinted In Prader-Willi/Angelman Syndrome 1) is a Protein Coding gene. Diseases associated with NIPA1 include spastic paraplegia 6, autosomal dominant and spastic paraplegia 6. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPAL3.
UniProtKB/Swiss-Prot for NIPA1 Gene
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).