PDZ Domain Containing Protein 7 (PDZD7)

Schneider et al. (2009) used positional cloning to identify the PDZD7 gene from junction fragments of a reciprocal t(10;11) translocation. They identified 4 PDZD7 isoform, of which the A and B isoforms contain 2 PDZ domains, whereas the shorter C and D contain no PDZ domains and 1 PDZ domain, respectively. RT-PCR analysis detected PDZD7 expression in human cortex with weak expression in the human inner ear.

By GST pull-down assay and Western blot analysis, Schneider et al. (2009) showed that PDZD7 interacted with SANS (USH1G) in HEK293T cells. GST pull-down assay in mouse retina showed that PDZD7 also interacted with harmonin (USH1C).