Primary Identifier | MGI:2157018 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 170484 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within gene expression. Located in cytoplasmic side of plasma membrane. Is active in cell periphery. Colocalizes with slit diaphragm. Is expressed in liver; metanephros; and ureter. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin). PHENOTYPE: Mice homozygous for disruptions in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age. [provided by MGI curators] |