基因名 |
NPHP1 |
别名 |
JBTS4,NPH1,SLSN1 |
英文名称 |
Recombinant human NPHP1 protein |
全名 |
nephronophthisis 1 (juvenile) |
中文名称 |
少年型肾单位肾痨蛋白1 |
外观(性状) |
Powder: Lyophilized from a 0.2 μm filtered solution of 2-8M Urea, 20mM Tris-HCl, 150mM NaCl, 1mM DTT, PH7.2-8.0. (Or liquid with 5% glycerol.) |
纯度 |
≥85% by SDS-PAGE. |
储存条件 |
Reconstituted protein solution can be stored at 4-7°C for 1-2 weeks, stored at < -20°C for 1 year. |
运输条件 |
The product is shipped at 2-8°C temperature. Upon receipt, store it immediately at the temperature listed below. |
浓度 |
1mg/ml by SDS-PAGE. |
Swiss Prot |
O15259 |
Gene ID |
4867 |
交叉反应 |
Human Mouse (Dog) |
分子量 |
14kDa |
区间范围 |
1-122aa |
背景说明 |
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. |
应用 |
Immunology research |
来源 |
E.coli |
纯化方法 |
NI-NTA affinity purification |
溶剂 |
Reconstituted protein solution can be diluted with distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. (It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water.) |
内毒素 |
Not measured |
生物活性 |
NO |
标签信息 |
With a 6×His tag at the N/C-terminus. |
规格 |
10ug 50ug 100ug 1mg |
单位 |
支 |