Entrez gene ID | | 84623 |
Official gene symbol | | KIRREL3 |
Full name | | kin of IRRE like 3 (Drosophila) |
Aliases | | ,KIAA1867,KIRRE,MGC126824,MGC126850,MRD4,NEPH2,PRO4502, |
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. |
Location | | Chromosome: 11 Locus: 11q24 |
Gene position | | 126870766 - 126293396 Map Viewer |
Gene orientation | | minus |
Gene size | | 577371 bp |
Gene sequence |
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OMIM ID | | 607761 |
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