Disease-gene associations mined from literature

Literature associating CAPN8 and Coffin-Siris syndrome

CAPN8 [ENSP00000355837]

Stomach-specific M-type calpain; Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta- subunit of coatomer complex (By similarity); Belongs to the peptidase C2 family.

Synonyms:  CAPN8,  CAPN8p,  hCAPN8,  A3QK36,  A3QK37 ...

Linkouts:  STRING  Pharos  UniProt