|Other Names||Kin of IRRE-like protein 3, Kin of irregular chiasm-like protein 3, Nephrin-like protein 2, KIRREL3, KIAA1867, NEPH2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target- specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells.|
|Cellular Location||Cell membrane; Single-pass type I membrane protein|
|Tissue Location||Expressed in fetal and adult brain (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023).|
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KIRR3 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.
Davila, S., et al. Genes Immun. (2010) In press :Anney, R.J., et al. Am. J. Med. Genet. B Neuropsychiatr.Genet. 147B (8), 1369-1378 (2008)Bhalla, K., et al. Am. J. Hum. Genet. 83(6):703-713(2008)Melzer, D., et al. PLoS Genet. 4 (5), E1000072 (2008) :Clark, H.F., et al. Genome Res. 13(10):2265-2270(2003)Sellin, L., et al. FASEB J. 17(1):115-117(2003)
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