background:
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+).
Subcellular Location:
Cell membrane. Early endosome. Recruited to the cell membrane in response to low extracellular magnesium.
Tissue Specificity:
Widely expressed with highest levels in neuronal tissues.
DISEASE:
Defects in NIPA1 are the cause of spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.
Similarity:
Belongs to the NIPA family.
Database links:
Entrez Gene: 12726 Human
Entrez Gene: 233280 Mouse
Entrez Gene: 308668 Rat
Omim: 608145 Human
SwissProt: Q7RTP0 Human
SwissProt: Q8SHK1 Mouse
Unigene: 511797 Human
Unigene: 389901 Mouse
Unigene: 443911 Mouse
Unigene: 48451 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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