Disease-gene associations mined from literature

Literature associating TMCO1 and scoliosis

TMCO1 [ENSP00000480514]

Transmembrane and coiled-coil domain-containing protein 1; Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis. In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store.

Synonyms:  TMCO1,  TMCO1p,  hTMCO1,  J3KS45,  J3KTQ7 ...

Linkouts:  STRING  Pharos  UniProt