Type I patients are profoundly deaf while type II (most common form of Usher syndrome) patients are mildly deaf but have normal in vestibular responses. Three forms of Usher syndrome have been characterized, Usher Type 1, II and III which can be distinguish based on severity of hearing loss and vestibular involvement. The affected individuals have sensory-neural deficiencies at birth and subsequently develop progressive retinitis pigmentosa (RP). It is the most common form of inherited deaf-blindness, accounting. The protein has a single transmembrane domain that anchor the protein to the cell membrane, the rest of the protein stays outside the cell.ĭefects in the USH2A gene are the most common cause of deafness and blindness in adults and affect 3-6% children born with hearing impairments. Usher syndrome is a genetic disorder characterized by the loss of both hearing and vision. The human Usher Syndrome 2A (Ush2A) protein has several functional domains (Laminin type EGF like domain Laminin-Type epidermal growth factor like domain and a fibronectin type 3 like domain). It is expressed primarily in retina and cochlea and may be important in the development and homeostasis of the inner ear and retina. The Usher 2A gene expresses an extra cellular matrix protein that resembles unconventional Myosin and do not appear to have any un-conventional functional correlations. Recommended alternatives for this product can be found below, along with publications, customer reviews and Q&As If you have any questions, special requirements or concerns, please send us an inquiry and/or contact our Support team ahead of purchase. Please check that this product meets your needs before purchasing. ![]() Abcam is leading the way in addressing this with our range of recombinant monoclonal antibodies and knockout edited cell lines for gold-standard validation. The Life Science industry has been in the grips of a reproducibility crisis for a number of years. Purified antibodies have the advantage of being enriched for the fraction of immunoglobulin that specifically reacts with the target antigen and for having a reduction of serum proteins. Please note that the dilutions may need to be adjusted accordingly. As a result, we are pleased to offer this antibody in a purified format as of.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |