ATP13A2
ATP13A2 (ATPase cation transporting 13A2, also known as PARK9, CLN12 and HSA9947) is a lysosomal P5-type ATPase that exports polyamines, with high affinity for spermine, and supports cation homeostasis and neuronal integrity. Browse Assay Genie's current range of ATP13A2 research reagents below, or read on for the biology behind the target.
ATP13A2 is an ATPase that acts as a lysosomal polyamine exporter with high affinity for spermine. It also stimulates cellular uptake of polyamines and protects against polyamine toxicity. The protein contributes to intracellular cation homeostasis, including cellular zinc balance, and confers protection against Mn(2+) and Zn(2+) toxicity and mitochondrial stress. It is required for proper lysosomal and mitochondrial maintenance and plays a role in lipid homeostasis and in maintaining neuronal integrity.
ATP13A2 also regulates the autophagy-lysosome pathway. It controls SYT11 expression at both transcriptional and post-translational levels, and it facilitates recruitment of the deacetylase HDAC6 to lysosomes, where HDAC6 deacetylates CTTN. This leads to actin polymerisation, promotion of autophagosome-lysosome fusion and completion of autophagy. The protein further promotes secretion of exosomes, including secretion of SCNA via exosomes. It is found on the membranes of lysosomes, late endosomes, multivesicular bodies and autophagosomes.
The ATP13A2 gene encodes a member of the P5 subfamily of ATPases, part of the cation transport ATPase (P-type) family and the type V subfamily, which transports inorganic cations as well as other substrates. HGNC places it in the ATPase orphan transporters group. Its previous names include Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome), reflecting the association of mutations in this gene with Kufor-Rakeb syndrome, also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been described.
Mutations in ATP13A2 are associated with Kufor-Rakeb syndrome, also called Parkinson disease 9, making it a focus for studies of inherited parkinsonism.
ATP13A2 exports polyamines from lysosomes with high affinity for spermine and protects cells against polyamine toxicity.
The protein regulates the autophagy-lysosome pathway, including HDAC6 recruitment and autophagosome-lysosome fusion, and is needed for lysosomal maintenance.
ATP13A2 contributes to cellular zinc homeostasis and protects against Mn(2+) and Zn(2+) toxicity and mitochondrial stress.
ATP13A2 is a lysosomal ATPase that exports polyamines, with high affinity for spermine. It also supports cation and zinc homeostasis, lysosomal and mitochondrial maintenance, lipid homeostasis and neuronal integrity, and it regulates autophagy and the secretion of exosomes.
PARK9 comes from the earlier name Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome), reflecting the disease link of the gene. Other aliases are CLN12 and HSA9947, and previous names include ATPase type 13A2 and ATPase 13A2. The UniProt name is Polyamine-transporting ATPase 13A2.
Mutations in ATP13A2 are associated with Kufor-Rakeb syndrome, also referred to as Parkinson disease 9. The mouse ortholog is Atp13a2. Check the datasheet of any product for its validated reactivity.
Other P-type ATPases, metal-transporting ATPases and lysosomal pump subunits with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q9NQ11; product specifications from Assay Genie datasheets.