DISEASES

Disease-gene associations mined from literature

Literature associating CLSTN1 and Schnyder corneal dystrophy

CLSTN1 [ENSP00000366513]

Alzheimer-related cadherin-like protein; Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2- mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1- binding. May modulate calcium-mediated postsynaptic signals (By similarity); Cadherin related

Synonyms:  CLSTN1,  CLSTN1p,  hCLSTN1,  B4E3Q1,  O94985 ...

Linkouts:  STRING  Pharos  UniProt  OMIM