Aliases for KIRREL3 Gene
External Ids for KIRREL3 Gene
Previous GeneCards Identifiers for KIRREL3 Gene
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.[provided by RefSeq, Sep 2009]
GeneCards Summary for KIRREL3 Gene
KIRREL3 (Kin Of IRRE Like 3 (Drosophila)) is a Protein Coding gene. Diseases associated with KIRREL3 include autosomal dominant non-syndromic intellectual disability and familial nephrotic syndrome. Among its related pathways are Cell junction organization and Nephrin interactions. An important paralog of this gene is KIRREL.
UniProtKB/Swiss-Prot for KIRREL3 Gene
Could be involved in the hematopoietic supportive capacity of stroma cells.