PKD1L3 Chromosome 16
Polycystin 1 like 3, transient receptor potential channel interacting
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What This Gene Does
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]
Gene Info
Gene Group
C-type lectin domain containing
Locus Type
gene with protein product
Location
16q22.2
Ensembl
ENSG00000277481
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201491908 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372942015 | Health Risk | Conflicting classifications of pathogenicity | — |