DISEASES

Disease-gene associations mined from literature

Literature associating TMEM110 and von Willebrand's disease

TMEM110 [ENSP00000347195]

TMEM110-MUSTN1 readthrough; Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER. SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts by interacting with STIM1, promoting STIM1 conformational switch. Involved in STIM1 relocalization to ER-PM junctions. Contributes to the maintenance and reorganization of store- dependent ER-PM junctions.

Synonyms:  TMEM110,  TMEM110p,  hTMEM110,  F8WDI5,  H7C551 ...

Linkouts:  STRING  Pharos  UniProt