DISEASES

Disease-gene associations mined from literature

Literature associating MAEA and frontal sinusitis

MAEA [ENSP00000302830]

E3 ubiquitin-protein transferase MAEA; Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex . MAEA is required for normal cell proliferation . The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 . Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis . Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable).

Synonyms:  MAEA,  B4DQT1,  B4DVN3,  D6R8Z3,  D6RA86 ...

Linkouts:  STRING  Pharos  UniProt  OMIM