Recombin human NPHP1 protein,BR

基因名:NPHP1
英文全称:nephronophthisis 1 (juvenile)
别称:JBTS4, NPH1, SLSN1
中文名称:少年型肾单位肾痨蛋白1
Uniprot:O15259
GeneID:4867
交叉反应(推测):Human Mouse (Dog)
氨基酸大小:14kDa
表达氨基酸:1-122aa
Background:This gene encodes a protein with src homology domain 3 (SH3) patterns.This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures.Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli.Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease.Multiple transcript variants encoding different isoforms have been found for this gene.
Application:Immunology research
Derived from:E.coli
Purification:NI-NTA affinity purification
Formulation:Lyophilized from a 0.2 μm filtered solution of Tris-HCl, PH8.0.
Shipping:The product is shipped at -20°C temperature. Upon receipt, store it immediately at the temperature listed below.
Storage:Reconstituted protein solution can be stored at 4-7°C for 1-2 months, stable at < -20°c="" for="" 2-3="">
Reconstitution:Reconstituted protein solution can be diluted with distilled PBS. Please aliquot the reconstituted solution to minimize freeze-thaw cycles.
Purity:Purity≥85% as determined by reducing SDS-PAGE.
Endotoxin:/
规格:10ug, 50ug, 100ug, 1mg, 注意：
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