PDZD7, Official Symbol PDZD7provided by HGNC Official Full Name PDZ domain containing 7provided by HGNC Primary source HGNC:HGNC:26257 See related Ensembl:ENSG00000186862 MIM:612971; AllianceGenome:HGNC:26257 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Broad expression in small intestine (RPKM 3.0), duodenum (RPKM 1.7) and 20 other tissues See more Orthologs mouse all