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
  • SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE

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]

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
  • KRPPD
  • PARK9
  • SPG78