Gene Symbol | KIRREL3 |
Entrez Gene ID | 84623 |
Full Name | kirre like nephrin family adhesion molecule 3 |
Synonyms | KIRRE,MRD4,NEPH2,PRO4502 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal dominant 4, 612581 (3) |