Gene Symbol | PDZD7 |
Entrez Gene ID | 79955 |
Full Name | PDZ domain containing 7 |
Synonyms | DFNB57,PDZK7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3); Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3) |