Anti-NPHP1 Polyclonal Antibody
产品名称: Anti-NPHP1 Polyclonal Antibody
英文名称: NPH1;JBTS4;SLSN1
产品编号: K007338P
产品价格: null
产品产地: 北京
品牌商标: Solarbio
更新时间: null
使用范围: WB IHC
北京索莱宝科技有限公司--实验室产品
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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.