Aliases for KIRREL Gene
External Ids for KIRREL Gene
Previous GeneCards Identifiers for KIRREL Gene
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]
GeneCards Summary for KIRREL Gene
KIRREL (Kin Of IRRE Like (Drosophila)) is a Protein Coding gene. Diseases associated with KIRREL include Congenital Nephrotic Syndrome Finnish Type and Nephrotic Syndrome, Type 1. Among its related pathways are Nephrin interactions and Cell junction organization. GO annotations related to this gene include myosin binding. An important paralog of this gene is KIRREL3.
UniProtKB/Swiss-Prot for KIRREL Gene
Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity).