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Product Name Anti-NIPA1/AF594 Chinese Name AF594标记的NIPA1蛋白抗体 Alias FSP 3; FSP3; Magnesium transporter NIPA1; MGC102724; MGC35570; NIPA 1; NIPA1; NIPA1_HUMAN; Non imprinted in Prader Willi/Angelman syndrome region protein 1; Non-imprinted in Prader-Willi/Angelman syndrome region protein 1; Spastic paraplegia 6 (autosomal dominant); Spastic paraplegia 6 protein; SPG 6; SPG6. Research Area Cell biology immunology Signal transduction Immunogen Species Rabbit Clonality Polyclonal React Species Applications ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 35kDa Form Lyophilized or Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human NIPA1 Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. Product Detail 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: 123606 Human
Entrez Gene: 233280 Mouse
Omim: 608145 Human
SwissProt: Q7RTP0 Human
SwissProt: Q8BHK1 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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