DISEASES

Disease-gene associations mined from literature

Literature associating KRT18 and alpha 1-antitrypsin deficiency

KRT18 [ENSP00000373487]

Cell proliferation-inducing gene 46 protein; Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection; Keratins, type I

Synonyms:  KRT18,  KRT18p,  hKRT18,  A0A024RAY2,  F8VZY9 ...

Linkouts:  STRING  Pharos  UniProt