产品说明
一般描述
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. (provided by RefSeq)
免疫原
NPHP1 (NP_997064.1, 1 a.a. ~ 121 a.a) full-length human protein.
Sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF
外形
Solution in phosphate buffered saline, pH 7.4
产品性质
| 质量水平 | 100 |
| 生物来源 | mouse |
| 偶联物 | unconjugated |
| 抗体形式 | purified immunoglobulin |
| antibody product type | primary antibodies |
| 克隆 | polyclonal |
| 形式 | buffered aqueous solution |
| 分子量 | antigen ~14.3 kDa |
| species reactivity | human |
| technique(s) | western blot: 1 μg/mL |
| NCBI登记号 | NM_207181.1 |
| UniProt登记号 | O15259 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... NPHP1(4867) |
安全信息
| 储存分类代码 | 13 - Non Combustible Solids |
| WGK | WGK 1 |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
