Gene Symbol | NIPA1 |
Entrez Gene ID | 123606 |
Full Name | non imprinted in Prader-Willi/Angelman syndrome 1 |
Synonyms | FSP3,SLC57A1,SPG6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 6, autosomal dominant, 600363 (3) |