ATP13A2 gene

ATPase 13A2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Parkinson disease 9

From UniProt:

Kufor-Rakeb syndrome (KRS): 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. [MIM:606693]

Ceroid lipofuscinosis, neuronal, 12 (CLN12): A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. [MIM:606693]

Cytogenetic Location: 1p36.13, which is the short (p) arm of chromosome 1 at position 36.13

Molecular Location: base pairs 16,985,958 to 17,011,972 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.13, which is the short (p) arm of chromosome 1 at position 36.13
  • CLN12
  • HSA9947
  • PARK9