MAEA
Description
The MAEA (macrophage erythroblast attacher, E3 ubiquitin ligase) is a protein-coding gene located on chromosome 4.
MAEA is a human gene that encodes a protein involved in various cellular processes, including cell proliferation, erythropoiesis, and ubiquitination. It is a core component of the CTLH E3 ubiquitin-protein ligase complex, which is essential for normal cell function.
MAEA is a core component of the CTLH E3 ubiquitin-protein ligase complex. It selectively accepts ubiquitin from UBE2H, mediating the ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are essential for the catalytic activity of this complex. MAEA is crucial for normal cell proliferation and is not involved in the degradation of enzymes involved in gluconeogenesis, such as FBP1. MAEA also plays a role in erythroblast enucleation during erythrocyte maturation and the development of mature macrophages. It mediates the attachment of erythroid cells to mature macrophages, inhibiting erythroid cell apoptosis. MAEA participates in erythroblastic island formation, the functional unit of definitive erythropoiesis. It associates with F-actin, regulating actin distribution in erythroblasts and macrophages. MAEA may also contribute to nuclear architecture and cell division events.
MAEA is also known as EMLP, EMP, GID9, HLC-10, P44EMLP, PIG5.
Associated Diseases
- type 2 diabetes mellitus
- hemoglobin D disease
- hemoglobin E disease
- X-linked sideroblastic anemia 1
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- hereditary elliptocytosis
- myelofibrosis
- pyruvate kinase deficiency of red cells
- cancer
