Disease-gene associations mined from literature

Literature associating RHOQ and progressive familial heart block type II

RHOQ [ENSP00000238738]

Rho-related GTP-binding protein RhoQ; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia; Rho family GTPases

Synonyms:  RHOQ,  E5RFZ3,  F8WET9,  H0YB40,  HEL-S-42 ...

Linkouts:  STRING  Pharos  UniProt  OMIM