Disease-gene associations mined from literature

Literature associating STIM1 and amelogenesis imperfecta type 3A

STIM1 [ENSP00000478059]

Stromal interaction molecule 1; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit ORAI1. Involved in enamel formation. Activated following interaction with STIMATE, leading to promote STIM1 conformational switch; Sterile alpha motif domain containing

Synonyms:  STIM1,  STIM1p,  hSTIM1,  E9PIQ8,  E9PJ19 ...

Linkouts:  STRING  Pharos  UniProt