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Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) ELISA Kits

NIPA1 encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. Additionally we are shipping and and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
NIPA1 123606 Q7RTP0
Anti-Mouse NIPA1 NIPA1 233280 Q8BHK1
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Top NIPA1 ELISA Kits at antibodies-online.com

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Catalog No. Reactivity Sensitivity Range Quantity Supplier Delivery Price Details
Human 0.15-10 ng/mL 96 Tests Log in to see 9 to 11 Days
$736.84
Details

More ELISA Kits for NIPA1 Interaction Partners

Human Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) interaction partners

  1. We report here a family with a pure form of Hereditary spastic paraplegia due to a de novo transition mutation in the NIPA1 gene.

  2. study reports direct evidence of de novo c.316G>A mutation in the same hotspot of the gene in two unrelated patients who had otherwise a prototypical NIPA1-associated phenotype with a severe form of uncomplicated spastic paraplegia

  3. NIPA1 polyalanine repeat expansions are a common risk factor for ALS and modulate disease course

  4. Epilepsy might be more common in spastic paraplegia type 6 than in other forms of Hereditary spastic paraplegia because of a genetic risk factor closely linked to NIPA1.

  5. One heterozygous missense mutation of NIPA1 was identified in a complicated form of hereditary spastic paraplegia type 6 family with peripheral nerves disease

  6. a genome-wide association study of amyotrophic lateral sclerosis identified the NIPA1 locus as a candidate for more in-depth studies

  7. discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant hereditary spastic paraplegia

  8. novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia

  9. quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales

  10. NIPA1 normally encodes a Mg2 (show MUC7 ELISA Kits)+ transporter and the loss-of function of NIPA1(SPG6) due to abnormal trafficking of the mutated protein provides the basis of the hereditary spastic paraplegia phenotype

Mouse (Murine) Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) interaction partners

NIPA1 Antigen Profile

Antigen 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.

Gene names and symbols associated with NIPA1

  • non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) antibody
  • non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) (Nipa1) antibody
  • 1110027G09Rik antibody
  • A830014A18Rik antibody
  • FSP3 antibody
  • Spg6 antibody

Protein level used designations for NIPA1

magnesium transporter NIPA1 , non-imprinted in Prader-Willi/Angelman syndrome 1 , non-imprinted in Prader-Willi/Angelman syndrome region protein 1 , spastic paraplegia 6 protein , non-imprinted in Prader-Willi/Angelman syndrome region protein 1 homolog , spastic paraplegia 6 homolog

GENE ID SPECIES
123606 Homo sapiens
233280 Mus musculus
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