DISEASES

Disease-gene associations mined from literature

Literature associating CAPN6 and Coffin-Siris syndrome 1

CAPN6 [ENSP00000317214]

Calpain-like protease X-linked; Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity); Belongs to the peptidase C2 family.

Synonyms:  CAPN6,  CAPN6p,  hCAPN6,  CAPN6-001,  F5GWQ6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM