ATP13A2 gene

ATPase cation transporting 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:

ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957). Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post-translational levels (PubMed:27278822).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Spastic paraplegia 78, autosomal recessive
  • Parkinson disease 9

From UniProt:

Spastic paraplegia 78, autosomal recessive (SPG78): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [MIM:617225]

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 Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)

Cytogenetic Location: 1p36.13, which is the short (p) arm of chromosome 1 at position 36.13
  • CLN12
  • HSA9947
  • PARK9
  • SPG78