Atpase Type 13a2 (ATP13A2) Antibody – Rabbit Polyclonal

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.

ATP13A2: May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity. 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. In the substantia nigra, it is found in neuromelanin- positive dopaminergic neurons. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; Transporter; Membrane protein, multi-pass; EC 3.6.3.-; Transporter, ion channel; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1p36

Cellular Component: lysosome; lysosomal membrane; integral to membrane

Molecular Function: protein binding; metal ion binding; ATPase activity; ATP binding

Biological Process: metabolic process; cation transport

Disease: Kufor-rakeb Syndrome