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.[provided by RefSeq, Nov 2008]

Function: May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity. Ref.12

Catalytic activity: ATP + H2O = ADP + phosphate.

Subcellular location: Membrane; Multi-pass membrane protein

By similarity. Lysosome Ref.11 Ref.12.

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). Ref.12

Involvement in disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]: A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11 Ref.13 Ref.14 Ref.17

Sequence similarities: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. [View classification]

Sequence caution: The sequence CAA08912.1 differs from that shown. Reason: Frameshift at position 1054.