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Proteintech
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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: 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