rs41289422
This variant is located in the PATJ gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitterAbout PATJ
This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]
View all PATJ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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