Disease-gene associations mined from literature

Literature associating MICU1 and cataract 3 multiple types

MICU1 [ENSP00000354415]

Calcium-binding atopy-related autoantigen 1; Key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake. Acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening. Enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm. Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake. Induces T-helper 1-mediated autoreactivity, which is accompanied by the release of IFNG.

Synonyms:  MICU1,  MICU1p,  hMICU1,  MICU1-002,  MICU1-003 ...

Linkouts:  STRING  Pharos  UniProt