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PDZD7 encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving PDZD7 have been associated with two types of Usher syndrome. Additionally we are shipping PDZD7 Antibodies (17) and many more products for this protein.
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it is clear that PDZD7 plays an essential role in organizing the USH2 complex at ankle links in developing cochlear hair cells.
Mutations in PDZD7 cause autosomal recessive non-syndromic hearing loss.
Both WHRN and PDZD7 are required for the complex formation with USH2A and GPR98.
overexpression of another Usher syndrome protein, PDZD7, decreased the AC inhibition of the VLGR1 beta-subunit (show POLG Proteins)
PDZD7 is a scaffolding component of the ankle-link complex in stereocilia and is associated with the Usher syndrome protein network.
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
PDZD7 is a new autosomal-recessive deafness-causing gene and a prime candidate gene for Usher syndrome.
This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.
PDZ domain containing 7
, PDZ domain-containing protein 7
, PDZ domain containing protein 7a