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. Author manuscript; available in PMC: 2011 Sep 1.
Published in final edited form as: Int J Biochem Cell Biol. 2010 Jun 11;42(9):1380–1387. doi: 10.1016/j.biocel.2010.05.014

Table I.

Genetic glomerular diseases and their associated mutated podocyte genes

Gene Protein Associated Disease Reference
Slit Diaphram
NPHS1 Nephrin Finnish type NS (Kestila et al., 1998)
NPHS2 Podocin Steroid-resistant NS (Boute et al., 2000)
CD2AP CD2 associated protein NS in KO Mice (Shih et al., 1999)
TRPC6 TRPC6 FSGS (Winn et al., 2005)
(Reiser et al., 2005)
PLCE1 Phospholipase Cε1 Early-onset NS with
ESRD
(Hinkes et al., 2006)

Cytoskeleton
ACTN4 α Actin 4 FSGS (Kaplan et al., 2000)
MYH9 NMMHC-A FSGS (Kao et al., 2008)

Nuclear protein
WT1 Wilms’ tumor 1 Denys Drash syndrome (Jeanpierre et al.,1998)
LMX1B LIM-homeodomain protein Nail-patella syndrome (Rohr et al., 2002)

NS: nephritic syndrome; FSGS: focal segmental glomerular sclerosis; ESRD: end stage renal disease; KO: knock-out.