Disease-gene associations mined from literature

Literature associating DST and lipoid proteinosis

DST [ENSP00000307959]

230/240 kDa bullous pemphigoid antigen; Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin- containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two- dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity); EF-hand domain containing

Synonyms:  DST,  E7ERU0,  E7ERX3,  E7ESK0,  E7ETB9 ...

Linkouts:  STRING  Pharos  UniProt