Symbol: Name: ID: |
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 GFS:6137 |
Gene name: | NIPA1 |
Chromosome: | 15q11.2 |
Previous Symbols: | SPG6 |
Previous Names: | spastic paraplegia 6 (autosomal dominant) |
Aliases: | MGC35570 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2442058 | Rat Genome Database ID: | RGD:1305401 |
HGNC ID: | HGNC:17043 | RefSeq IDs: | NM_001142275 |
Entrez Gene ID: | 123606 | Ensembl Gene ID: | ENSG00000170113 |
VEGA IDs: | OTTHUMG00000129099 | UniProt ID: | Q7RTP0 |
UCSC ID: | uc001yvc.2 | OMIM ID: | 608145 |
Pubmed: | PMID14508710 | ||
CCDS IDs: | CCDSCCDS10011.1 CCDS CCDS45190.1 |
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the 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].
Function: 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).
Products for NIPA1 gene
Catalog | Product Name | Application | Company |
GFS:E06137 | non imprinted in Prader-Willi/Angelman syndrome 1; ELISA kit | ELISA | n/a |
GFS:A06137 | non imprinted in Prader-Willi/Angelman syndrome 1; Anti | ANTIBODIES | n/a |
GFS:P06137 | non imprinted in Prader-Willi/Angelman syndrome 1; Protien | Protien | n/a |