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RNA tissue category: Group enriched (brain, caudate, cerebellum, hippocampus)
GENE INFORMATION
Gene name
KIRREL3 (HGNC Symbol)
Synonyms
KIAA1867, KIRRE, NEPH2
Description
Kin of IRRE like 3 (Drosophila) (HGNC Symbol)
Entrez gene summary
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]