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PDZD7 PDZ domain containing 7

Also known as: PDZK7; DFNB57

Summary

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. [provided by RefSeq, Dec 2010]

Genomic context

Location:
10q24.31
Sequence:
Chromosome: 10; NC_000010.11 (101007683..101031157, complement)
Total number of exons:
19

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