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Rabbit Anti-ATP13A2/FITC Conjugated antibody
background:
ATP13A2 is a 1,36 amino acid multi-pass membrane protein that belongs to the P5 subfamily of ATPases which play an important role in the transportation of inorganic cations. Expressed as multiple alternative spliced isoforms, ATP13A2 functions to catalyze the conversion of ATP to ADP and a free phosphate, thereby participating in the active transport of ions across cellular membranes. Defects in the gene encoding ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS), a rare hereditary type of Parkinson’s disease that exhibits juvenile onset and is characterized by neurodegeneration and dementia. The ATP13A2 gene maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
Function:
May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.
Subcellular Location:
Membrane; Multi-pass membrane protein (By similarity). Lysosome.
Tissue Specificity:
Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).
DISEASE:
Defects in ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS) [MIM:606693]; also known as Parkinson disease type 9 (PARK9). KRS is a rare hereditary disease with juvenile onset. In addition to typical signs of Parkinson disease, affected individuals show symptoms of more widespread neurodegeneration, including dementia.
Similarity:
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
Database links:
Entrez Gene: 23400 Human
Entrez Gene: 74772 Mouse
Entrez Gene: 362645 Rat
SwissProt: Q9NQ11 Human
SwissProt: Q9CTG6 Mouse
Unigene: 128866 Human
Unigene: 205625 Mouse
Unigene: 19659 Rat
Omim: 610513 Human
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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