DISEASES

Disease-gene associations mined from literature

Literature associating TMBIM6 and amelogenesis imperfecta type 3A

TMBIM6 [ENSP00000389277]

Transmembrane BAX inhibitor motif-containing protein 6; Suppressor of apoptosis. Modulates unfolded protein response signaling. Modulates ER calcium homeostasis by acting as a calcium-leak channel. Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity); Transmembrane BAX inhibitor motif containing

Synonyms:  TMBIM6,  TMBIM6p,  hTMBIM6,  A0A024R0Z5,  F8VPI1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM