KIRRE antibody, MRD4 antibody, NEPH2 antibody, PRO4502 antibody, 1500010O20Rik antibody, 2900036G11Rik antibody, SST4 antibody, mKIAA1867 antibody, kirre like nephrin family adhesion molecule 3 antibody, kin of IRRE like 3 (Drosophila) antibody, KIRREL3 antibody, Kirrel3 antibody
Background
The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.