NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2\; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008].
Ito, Sugihara, Asaka, Toyama, Yoshihara, Furuichi, Wada, Asano: "Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice." in: PLoS ONE, Vol. 7, Issue 1, pp. e29873, (2012) (PubMed).
Aliases for KIRREL 抗体
nephrin related (Smp_104390) 抗体 nephrin related (Smp_140170) 抗体 kirre like nephrin family adhesion molecule 1 (KIRREL1) 抗体 kin of IRRE like (Drosophila) (Kirrel) 抗体 kirre like nephrin family adhesion molecule 1 (Kirrel1) 抗体 6720469N11Rik 抗体 Kirrel1 抗体 NEPH1 抗体 Neph1 抗体