ATP13A2
Universal Cellular Machinery · Transmembrane Solute & Ion Transport
Why might a cellular transport ATPase matter for neurological health?
ATP13A2 encodes an energy-dependent transporter involved in moving substances across cellular membranes. Certain pathogenic variants are linked to inherited neurological disease, while other variants require separate assessment.
- Common Gene Name
- ATPase cation transporting 13A2
- NCBI Gene ID
- 23400
- Chromosome
- 1
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (1 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| Kufor-Rakeb syndrome | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2022-04-14 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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