ATP13A2
Sign in to saveAlso known as CLN12, HSA9947, KRPPD, PARK9, ATPase 13A2, SPG78, ATPase cation transporting 13A2
Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene that is involved in the transport of divalent transition metal cations. It appears to protect cells from manganese and zinc toxicity, possibly by causing cellular efflux and/or lysosomal sequestration; and from iron toxicity, possibly by preserving lysosome integrity against iron-induced lipid peroxidation. However, it potentiates the toxic effects of cadmium and nickel on developing neurites, and of the widely used herbicide paraquat possibly by increasing polyamine uptake.
Gene data
ATP13A2- Name
- ATPase cation transporting 13A2
- Type
- protein-coding
- Position
- 16,985,958–17,011,986 (−)
- Aliases
- CLN12, HSA9947, KRPPD, PARK9, SPG78
- Ensembl
- ENSG00000159363
- RefSeq RNA
- NM_001141973.3, NM_001141974.3, NM_022089.4, XM_005245810.2, XM_005245811.2
- RefSeq protein
- NP_001135445.1, NP_001135446.1, NP_071372.1, XP_005245867.1, XP_005245868.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ATPase cation transporting 13A2
- Symbol
- ATP13A2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:16,985,958-17,011,986
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- External links
- Further reading
Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene that is involved in the transport of divalent transition metal cations. It appears to protect cells from manganese and zinc toxicity, possibly by causing cellular efflux and/or lysosomal sequestration; and from iron toxicity, possibly by preserving lysosome integrity against iron-induced lipid peroxidation. However, it potentiates the toxic effects of cadmium and nickel on developing neurites, and of the widely used herbicide paraquat possibly by increasing polyamine uptake.
Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.
Excerpted from Wikipedia’s “ATP13A2” article, available under the CC BY-SA 4.0 licence.