基因注释：NPHP1

官方名称：nephrocystin 1

功能摘要：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, Jul 2008].

• HNRNPC 综合评分: 0.350 · 证据 2 条
• Tardbp 综合评分: 0.310 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• EIF4A3 综合评分: 0.100 · 证据 2 条
• ELAVL3 综合评分: 0.100 · 证据 1 条
• NXF1 综合评分: 0.100 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• U2af2 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录