USH2A Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ELISA, IHC, WB
Recommend Dilution	ELISA. Western Blot: 1/200-1/2000.  Immunohistochemistry: 1/50-1/500.
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide derived from C-terminal domain of Human Ush2A
Specificity	This antibody reacts with Human 570 kDa USH2A protein. Cross reacts with Rat, Mouse and other species.
Formulation	State: Serum State: Lyophilized serum Preservative: none
Reconstitution Method	Restore in distilled water.
Conjugation	Unconjugated
Storage Condition	Store lyophilized at 2-8°C for 6 months or at -20°C long term. After reconstitution store the antibody undiluted at 2-8°C for one month  or (in aliquots) at -20°C long term. Avoid repeated freezing and thawing.
Gene Name	usherin
Database Link	Entrez Gene 7399 Human UniProt ID O75445
Background	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. It is expressed primarily in retina and cochlea and may be important in the development and homeostasis of the inner ear and retina. 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). The protein has a single transmembrane domain that anchor the protein to the cell membrane, the rest of the protein stays outside the cell. Defects in the USH2A gene are the most common cause of deafness and blindness in adults and affect 3-6% children born with hearing impairments. The affected individuals have sensory-neural deficiencies at birth and subsequently develop progressive retinitis pigmentosa (RP). 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. Type I patents are profoundly deaf while type II (most common form of Usher syndrome) patients are mildly deaf but have normal in vestibular responses.
Synonyms	Usher syndrome type IIa protein, Usher syndrome type-2A protein
Reference Data

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