Literature associating CAPN8 and Coffin-Siris syndrome
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 ...