Pdzd7 Gene Search Result

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3 records found for search term Pdzd7

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1320465	PDZD7	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. ... (more) [provided by RefSeq, Dec 2010]	10	101007679	101031129	Human	204	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1604645	USH1C	USH1 protein network component harmonin	This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-sy ... (more) ndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]	11	17493900	17544416	Human	434	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1349509	WHRN	whirlin	This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative sp ... (more) licing results in multiple transcript variants. [provided by RefSeq, Nov 2016]	9	114402080	114505473	Human	295	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]