Viral Details

Viral Backbone

Human Adenovirus Type5 (dE1/E3)

Promoter

CMV

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

DMEM, 2% BSA, 2.5% Glycerol

Gene Details

Species

Human

Gene Symbol

USH1C

Gene Name

USH1 protein network component harmonin

Gene ID

10083

Gene Synonyms

AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; ush1cpst

ORF Size

1602 bp

RefSeq#

BC016057

Gene Description

USH1C 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-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene.

UniGene ID

Hs.502072

HGNC ID

HGNC:12597