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The antibody against USH1C was raised in Rabbit using the recombinant fusion protein containing a sequence corresponding to amino acids 264-533 of human USH1C (NP_001284693.1) as the immunogen. The polyclonal antibody exists as a isotype IgG, by affinity purification. This antibody has been validated on WB, ELISA.
The antibody against USH1C was raised in Rabbit using the recombinant fusion protein containing a sequence corresponding to amino acids 264-533 of human USH1C (NP_001284693.1) as the immunogen. The polyclonal antibody exists as a isotype IgG, by affinity purification. This antibody has been validated on WB, ELISA.
| Cat.No | ADA-06332A | Clonality | Polyclonal |
|---|---|---|---|
| Host Species | Rabbit | Target Name | USH1C |
| Target Synonyms | PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38; USH1C | Form | Liquid |
| Species Reactivity | Human, Mouse, Rat | Isotype | IgG |
| Storage Buffer | 50% Glycerol, PBS with 0.02% sodium azide, pH7.3. | Purification Method | Affinity purification |
| Positive Samples | HeLa, Mouse kidney, 293T, Mouse small intestine, Rat kidney | Application | ELISA, WB |
| Immunogen Description | Recombinant fusion protein containing a sequence corresponding to amino acids 264-533 of human USH1C (NP_001284693.1). | Target Species | Human |
|---|---|---|---|
| Uniprot ID | Q9Y6N9 | Immunogen Sequence |
Uniprot Id
Q9Y6N9
Target Species
Human
Target Name
USH1C
Target Full Name
Harmonin
Target Function
Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips.
Target Involvement
Usher syndrome 1C (USH1C); Deafness, autosomal recessive, 18A (DFNB18A)
Target Subcellular Location
Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus.
Target Tissue Specificity
Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
Target Synonyms
AIE 75; AIE75; Antigen NY CO 38/NY CO 37; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy related antigen AIE 75; Autoimmune enteropathy related antigen AIE75; Autoimmune enteropathy-related antigen AIE-75; Deafness autosomal recessive 18; DFNB 18; DFNB18; Harmonin; NY CO 37; NY CO 38; PDZ 45; PDZ 73; PDZ 73 protein; PDZ 73/NY CO 38; PDZ45; PDZ73; PDZ73 protein; Protein PDZ-73; Renal carcinoma antigen NY REN 3; Renal carcinoma antigen NY-REN-3; USH 1C; USH1C; USH1C_HUMAN; Ush1cpst; Usher syndrome 1C (autosomal recessive severe); Usher syndrome 1C; Usher syndrome type 1C protein; Usher syndrome type-1C protein
Target Background
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.
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