Disease-gene associations mined from literature

Literature associating CAST and early infantile epileptic encephalopathy 5

CAST [ENSP00000379157]

Sperm BS-17 component; Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue; Belongs to the protease inhibitor I27 (calpastatin) family.

Synonyms:  CAST,  B7Z468,  B7Z574,  B7Z5T9,  D6RAA8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM