DISEASES

Disease-gene associations mined from literature

Literature associating JMY and phacolytic glaucoma

JMY [ENSP00000379441]

Junction mediating and regulatory protein, p53 cofactor; Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin polymerization in the absence of Arp2/3, creating unbranched filaments. Contributes to cell motility by controlling actin dynamics. May promote the rapid formation of a branched actin network by first nucleating new mother filaments and then activating Arp2/3 to branch off these filaments. The p53/TP53-cofactor and actin activator activities are regulated via its subcellular location (By similarity); Wiskott-Aldrich Syndrome protein family

Synonyms:  JMY,  Q8N9B5,  Q8N9B5p,  hQ8N9B5,  133746 ...

Linkouts:  STRING  Pharos  UniProt  OMIM