|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||Could be involved in the hematopoietic supportive capacity of stroma cells.|
|Cellular Location||Cell membrane; Single-pass type I membrane protein|
|Tissue Location||Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli.|
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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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