DISEASES

Disease-gene associations mined from literature

Literature associating CASQ1 and Stormorken syndrome

CASQ1 [ENSP00000357057]

Calsequestrin 1 (fast-twitch, skeletal muscle); Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity; Protein disulfide isomerases

Synonyms:  CASQ1,  CASQ1p,  hCASQ1,  C9JAC8,  P31415 ...

Linkouts:  STRING  Pharos  UniProt  OMIM