At least 170 mutations in the NPHS2 gene have been found to cause congenital nephrotic syndrome. This condition is a kidney disorder that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood.

2024年12月25日 · NPHS2 (NPHS2 Stomatin Family Member, Podocin) is a Protein Coding gene. Diseases associated with NPHS2 include Nephrotic Syndrome, Type 2 and Nephrotic Syndrome. Among its related pathways are Cell junction organization and Nephrin/Neph1 signaling in the kidney podocyte. An important paralog of this gene is STOM.

NPHS2 stomatin 家族成员，podocin： 该基因编码的蛋白质在调节肾小球通透性方面发挥作用。 该基因的突变会导致类固醇耐药性肾病综合征。 可变剪接导致多个转录本变体。

Almost 50 NPHS2 mutations have been reported and variants and/or non silent polymorphisms potentially involved in proteinuria were recognized. Personalized data on clinical aspects related to...

足蛋白 (Podocin 、NPHS2)是在人體內由 NPHS2 (Nephrosis 2) 基因 編碼的 蛋白質。 [1][2][3] NPHS2已經顯示出與 腎病蛋白 (Nephrin) [4] 及 CD2AP [4] 有所 交互作用。

2014年4月1日 · Nephrotic syndrome type 2 (NPHS2) is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation.

Mutations in the podocin gene, NPHS2, have been shown in familial and sporadic forms of steroid-resistant nephrotic syndrome, including focal segmental glomerulosclerosis. Podocin is an integral...

NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by sporadic SRNS or heavy proteinuria in Japanese children. results reveal defective cellular processing of the mutant podocin, and provide evidence for pharmacological correction of the processing defect

"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome". Nat Genet. 24 (4): 349–54. doi: 10.1038/74166. PMID 10742096. S2CID 20737871. ^ "Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin)".

NPHS2 is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family. We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role ...