DISEASES

Disease-gene associations mined from literature

Literature associating ACTN4 and familial nephrotic syndrome

ACTN4 [ENSP00000252699]

Non-muscle alpha-actinin 4; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA; Belongs to the alpha-actinin family.

Synonyms:  ACTN4,  ACTN4p,  hACTN4,  H7C144,  K7EJH8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM