Gene Symbol | ATP13A2 |
Entrez Gene ID | 23400 |
Full Name | ATPase 13A2 |
Synonyms | CLN12,HSA9947,KRPPD,PARK9,SPG78 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Kufor-Rakeb syndrome, 606693 (3); Spastic paraplegia 78, autosomal recessive, 617225 (3) |