NEPH2 | definition of NEPH2 by Medical dictionary
KIRREL3 (redirected from NEPH2)
KIRREL3 A gene on chromosome 11q24 that encodes a protein belonging to the immunoglobulin superfamily which may be involved in the haematopoietic supportive capacity of stromal cells.
Defects of KIRREL3 cause mental retardation autosomal dominant type 4.
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References in periodicals archive
Kretz et al., "NEPH2
is located at the glomerular slit diaphragm, interacts with nephrin and is cleaved from podocytes by metalloproteinases," Journal of the American Society ofNephrology, vol.
It has also been suggested that this complex contains Neph1, Neph2
, nephrin, and CD2AP, as well as TRPC6, and acts as a sensor in monitoring glomerular pressure and filtration rate (reviewed in Huber et al (47)).