Synonyms:DFNB57, ENTREZ:79955, HGNC:26257, MIM:612971, NM_001195263, NM_001351044, NM_024895, NP_001182192, NP_001337973, NP_079171, PDZ domain containing 7, PDZD7, PDZK7, XM_005270165, XM_011540177, XM_011540178, XM_011540179, XM_011540181, XM_011540183, XM_017016667, XM_017016668, XP_005270222, XP_011538479, XP_011538480, XP_011538481, XP_011538483, XP_011538485, XP_016872156, XP_016872157, XR_001747203, XR_945816
Omim:OMIM:612971
Id:ENSG00000186862
Hgnc:HGNC:26257
Description:PDZ domain containing 7
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]