Anti-USH1C/Harmonin antibody produced in goat, affinity isolated antibody, buffered aqueous solution

Not available outside of the UK & Ireland.

Biochem/physiol Actions

Harmonin acts as a scaffolding protein and interacts via its six PSD95/Dlg/Z-1 homology (PDZ)-domain with myosin VIIa, scaffoldproteincontaining ankyrin repeats, and SAM domain (SANS), and cadherin 23. It plays a role in normal mechanosensory function in cochlear hair cells. Mutations in the USH1C gene are associated with non-syndromic recessive deafness, retinitis pigmentosa, and Usher syndrome type 1.

Features and Benefits

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General description

The Usher syndrome type 1C (USH1C) gene encodes for harmonin, a six PSD95/Dlg/Z-1 homology (PDZ) domain-containing protein. The USH1C gene is mapped on the human chromosome at 11p15.1.

Immunogen

Peptide with sequence DRKVAREFRHKVD-C from the N Terminus of the protein sequence according to NP_005700.2; NP_710142.1.

Physical form

Supplied at 0.5 mg/mL in Tris saline with 0.02% sodium azide and 0.5% bovine serum albumin.