Anti-NPHP1 Polyclonal Antibody
產品名稱: Anti-NPHP1 Polyclonal Antibody
英文名稱: NPH1;JBTS4;SLSN1
產品編號: K007338P
產品價格: null
產品產地: 北京
品牌商標: Solarbio
更新時間: null
使用范圍: WB IHC
北京索萊寶科技有限公司--實驗室產品
- 聯系人 :
- 地址 : 北京市通州區馬駒橋聯東U谷景盛南四街85A三層
- 郵編 :
- 所在區域 : 北京
- 電話 : 010-563*1250 點擊查看
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- 郵箱 : 2748554845@qq.com
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.
