Disease-gene associations mined from literature

Literature associating PLEKHH2 and focal segmental glomerulosclerosis

PLEKHH2 [ENSP00000282406]

Pleckstrin homology domain containing, family H (with MyTH4 domain) member 2; In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia; FERM domain containing

Synonyms:  PLEKHH2,  PLEKHH2p,  hPLEKHH2,  E5RGK1,  H0YBV1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM