DISEASES

Disease-gene associations mined from literature

Literature associating PLEKHA3 and rhizomelic chondrodysplasia punctata type 3

PLEKHA3 [ENSP00000234453]

Pleckstrin homology domain-containing family A member 3; Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4- phosphate (PtdIns4P).

Synonyms:  PLEKHA3,  PLEKHA3p,  hPLEKHA3,  F8WCR7,  H7C0Q0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM