USH1C Human

Usher Syndrome 1C Human Recombinant

Cat. No.

BT28738

Source

Escherichia Coli.

Synonyms

Harmonin, Usher syndrome type-1C protein, Autoimmune enteropathy-related antigen AIE-75, Antigen NY-CO-38/NY-CO-37, PDZ-73 protein, Renal carcinoma antigen NY-REN-3, USH1C, AIE75, PDZ73, AIE-75, DFNB18, PDZ-45, NY-CO-37, NY-CO-38, ush1cpst, PDZ-73/NY-CO-38.

Appearance

Sterile Filtered colorless solution.

Purity

Greater than 95.0% as determined by SDS-PAGE.

Usage

THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.

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Description

USH1C Human Recombinant fused with a 37 amino acid His tag at N-terminus produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 570 amino acids (1-533 a.a.) and having a molecular mass of 64.6kDa.
The USH1C is purified by proprietary chromatographic techniques.

Product Specs

Introduction

Harmonin, encoded by the USH1C gene, is a crucial scaffold protein involved in assembling Usher protein complexes. It plays a vital role in connecting various proteins within cell membranes and coordinating their actions. Harmonin's structure encompasses PDZ domains, a coiled-coil region with a bipartite nuclear localization signal, and a PEST degradation sequence. Its expression is observed in tissues such as the small intestine, colon, kidney, eye, vestibule of the inner ear, and to a lesser extent, the pancreas. Mutations in the USH1C gene can lead to Usher syndrome type I, an autosomal recessive disorder characterized by congenital profound sensorineural deafness, vestibular dysfunction, and progressive retinitis pigmentosa, resulting in blindness. Sensorineural deafness arises from damage to the inner ear's neural receptors, the neural pathways transmitting auditory information to the brain, or the brain region responsible for processing sound. Usher syndrome is classified into three types (1-3) based on the age of onset and variations in auditory and vestibular function. Defects in the USH1C gene are implicated in non-syndromic sensorineural deafness autosomal recessive type 18 (DFNB18), a form of hearing loss affecting the inner ear.

Description

USH1C Human Recombinant protein, fused with a 37 amino acid His tag at the N-terminus, is produced in E. coli. This single, non-glycosylated polypeptide chain consists of 570 amino acids (1-533 a.a.) and has a molecular weight of 64.6kDa. The purification process of USH1C involves proprietary chromatographic methods.

Physical Appearance

A clear and colorless solution that has been sterilized by filtration.

Formulation

The USH1C protein solution has a concentration of 1mg/ml and is prepared in a buffer containing 20mM Tris-HCl (pH 8.0) and 20% glycerol.

Stability

For short-term storage (up to 2-4 weeks), the entire vial can be stored at 4°C. For extended periods, it is recommended to store the protein frozen at -20°C. To further enhance long-term stability, the addition of a carrier protein (0.1% HSA or BSA) is advised. It's important to avoid repeated cycles of freezing and thawing.

Purity

The purity of the USH1C protein is greater than 95.0%, as determined by SDS-PAGE analysis.

Synonyms

Source

Escherichia Coli.

Amino Acid Sequence

MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMDR KVAREFRHKV DFLIENDAEK DYLYDVLRMY HQTMDVAVLV GDLKLVINEP SRLPLFDAIR PLIPLKHQVE YDQLTPRRSR KLKEVRLDRL HPEGLGLSVR GGLEFGCGLF ISHLIKGGQA DSVGLQVGDE IVRINGYSIS SCTHEEVINL IRTKKTVSIK VRHIGLIPVK SSPDEPLTWQ YVDQFVSESG GVRGSLGSPG NRENKEKKVF ISLVGSRGLG CSISSGPIQK PGIFISHVKP GSLSAEVGLE IGDQIVEVNG VDFSNLDHKE GRELFMTDRE RLAEARQREL QRQELLMQKR LAMESNKILQ EQQEMERQRR KEIAQKAAEE NERYRKEMEQ IVEEEEKFKK QWEEDWGSKE QLLLPKTITA EVHPVPLRKP KYDQGVEPEL EPADDLDGGT EEQGEQDFRK YEEGFDPYSM FTPEQIMGKD VRLLRIKKEG SLDLALEGGV DSPIGKVVVS AVYERGAAER HGGIVKGDEI MAINGKIVTD YTLAEADAAL QKAWNQGGDW IDLVVAVCPP KEYDDELTFF.

Product Science Overview

Introduction

Usher Syndrome is an autosomal recessive disorder characterized by a combination of hearing loss, retinitis pigmentosa (a progressive vision loss), and in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous, with three distinctive clinical types (I–III) and nine identified Usher genes . Usher Syndrome 1C (USH1C) is one of the subtypes of Usher Syndrome Type 1, which is the most severe form of the disorder.

Genetic Basis

The USH1C gene is located on chromosome 11 and encodes a protein known as harmonin. This gene contains 28 exons and undergoes alternative splicing, resulting in multiple mRNA transcript variants. Mutations in the USH1C gene lead to Usher Syndrome Type 1C, characterized by congenital, bilateral sensorineural hearing loss, vestibular dysfunction, and progressive vision loss due to retinitis pigmentosa.

Protein Function

Harmonin, the protein encoded by the USH1C gene, plays a crucial role in the sensory cells of the inner ear and retina. It is involved in the organization and function of stereocilia in hair cells of the inner ear, which are essential for hearing and balance. In the retina, harmonin is important for the maintenance and function of photoreceptor cells, which are responsible for vision.

Clinical Manifestations

Usher Syndrome Type 1C is characterized by:

Hearing Loss: Profound congenital sensorineural hearing loss, which is typically present at birth.
Vision Loss: Progressive vision loss due to retinitis pigmentosa, which usually begins in childhood or adolescence.
Vestibular Dysfunction: Balance issues due to vestibular dysfunction, leading to delayed motor milestones in affected children.

Diagnosis and Genetic Testing

Diagnosis of Usher Syndrome Type 1C involves a combination of clinical evaluation, audiological and ophthalmological assessments, and genetic testing. Genetic testing can confirm the diagnosis by identifying mutations in the USH1C gene . Early diagnosis is crucial for appropriate management and genetic counseling.

Treatment and Management

Currently, there is no cure for Usher Syndrome Type 1C. Management focuses on addressing the symptoms and improving the quality of life for affected individuals. This includes:

Hearing Aids and Cochlear Implants: To assist with hearing loss.
Vision Aids and Mobility Training: To help with vision impairment.
Physical Therapy: To address balance issues and improve motor skills.

Research and Future Directions

Ongoing research aims to better understand the molecular mechanisms underlying Usher Syndrome and to develop potential therapies. Gene therapy, stem cell therapy, and pharmacological approaches are being explored as potential treatments for Usher Syndrome Type 1C.

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USH1C Human

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