The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
% SDS-PAGE. ab86697 is purified using conventional chromatography techniques.
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Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Constituents: 20% Glycerol, 20mM Tris HCl, pH 8.0
Antigen NY CO 38/NY CO 37
Autoimmune enteropathy related antigen AIE 75
Autoimmune enteropathy related antigen AIE75
Autoimmune enteropathy-related antigen AIE-75
Deafness autosomal recessive 18
NY CO 37
NY CO 38
PDZ 73 protein
PDZ 73/NY CO 38
Renal carcinoma antigen NY REN 3
Renal carcinoma antigen NY-REN-3
Usher syndrome 1C
Usher syndrome 1C (autosomal recessive severe)
Usher syndrome type 1C protein
Usher syndrome type-1C protein
機能May be involved in protein-protein interaction.
組織特異性Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
関連疾患Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:276904]; 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18) [MIM:602092]. DFNB18 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.
配列類似性Contains 3 PDZ (DHR) domains.
ドメインThe PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7.