PKD1
Nervous System · Neuronal Excitability & Ion Flux
What does PKD1 do in kidney cells?
PKD1 makes polycystin-1, a membrane protein that interacts with polycystin-2 in cellular signaling. Certain pathogenic changes disrupt kidney biology, but an unclassified variant does not by itself establish polycystic kidney disease.
- Common Gene Name
- polycystin 1, transient receptor potential channel interacting
- NCBI Gene ID
- 5310
- Chromosome
- 16
Clinical Evidence Status
Actionability report availableEstablished 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 (4 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| autosomal recessive polycystic kidney disease | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2023-01-11 |
| autosomal dominant polycystic kidney disease | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2021-02-26 |
| Polycystic kidney disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2006-06 | |
| Autosomal Dominant Polycystic Kidney Disease | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2022-02-09 |
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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