DISEASES

Disease-gene associations mined from literature

Literature associating PDLIM1 and Johanson-Blizzard syndrome

PDLIM1 [ENSP00000360305]

PDZ and LIM domain protein 1; Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton . Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity).

Synonyms:  PDLIM1,  PDLIM1p,  hPDLIM1,  HEL-S-112,  O00151 ...

Linkouts:  STRING  Pharos  UniProt  OMIM