Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MDRKVAREF RHKVDFLIEN DAEKDYLYDV LRMYHQTMDV AVLVGDLKLV INEPSRLPLF DAIRPLIPLK HQVEYDQLTP RRSRKLKEVR LDRLHPEGLG LSVRGGLEFG CGLFISHLIK GGQADSVGLQ VGDEIVRING YSISSCTHEE VINLIRTKKT VSIKVRHIGL IPVKSSPDEP LTWQYVDQFV SESGGVRGSL GSPGNRENKE KKVFISLVGS RGLGCSISSG PIQKPGIFIS HVKPGSLSAE VGLEIGDQIV EVNGVDFSNL DHKEGRELFM TDRERLAEAR QRELQRQELL MQKRLAMESN KILQEQQEME RQRRKEIAQK AAEENERYRK EMEQIVEEEE KFKKQWEEDW GSKEQLLLPK TITAEVHPVP LRKPKYDQGV EPE (1-392 aa encoded by BC016057)
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-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Harmonin; harmonin a1; PDZ domain-containing protein; PDZ-73 protein; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome 1C homolog; Usher syndrome type-1C protein; Usher syndrome type-1C protein homolog
Gene Aliases: 2010016F01Rik; AIE-75; AIE75; DFNB18; DFNB18A; harmonin; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; USH1C; ush1cpst
UniProt ID: (Human) Q9Y6N9, (Mouse) Q9ES64
Entrez Gene ID: (Human) 10083, (Rat) 308596, (Mouse) 72088
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn moreGet expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support