Recombinant Human USH1C/Harmonin Protein (His Tag)

Specifications

Catalog number

PKSH031508

Size / count

100 µg

Dry ice

No

Hazardous

No

Discontinued

No

Background

Harmonin, also known as Antigen NY-CO-38 / NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein and USH1C, is a protein which is expressed in small intestine, colon, kidney, eye and weakly in pancreas. USH1C is expressed also in vestibule of the inner ear. USH1C contains 3PDZ (DHR) domains. USH1C may be involved in protein-protein interaction. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C), also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3) . Defects in USH1C are also the cause of deafness autosomal recessive type 18 (DFNB18) which is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Synonyms

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

UniProt

Q9Y6N9

Accession Number

Q9Y6N9-1

Expression System

E.coli

Tag

N-His

Sequence

Met 1-Phe 552

Field of Research

Neuroscience

Endotoxin

Please contact us for more information.

Purity

> 92 % as determined by reducing SDS-PAGE.

Bioactivity

Not validated for activity

Reconstitution

Please refer to the printed manual for detailed information.

Shipping Conditions

This product is provided as lyophilized powder which is shipped with ice packs.

Storage Conditions

Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.

Calculated Molecular Weight

63.7 kDa

Observed Molecular Weight

63.7 kDa

Species

Human