Disease-gene associations mined from literature

Literature associating MICU2 and cataract 3 multiple types

MICU2 [ENSP00000371811]

EF-hand domain-containing family member A1; Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium. MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering.

Synonyms:  MICU2,  MICU2p,  hMICU2,  Q8IYU8,  EFHA1 ...

Linkouts:  STRING  Pharos  UniProt