DISEASES

Disease-gene associations mined from literature

Literature associating MEGF10 and distal spinal muscular atrophy 1

MEGF10 [ENSP00000274473]

Multiple epidermal growth factor-like domains protein 10; Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells. Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides. Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum. Plays role in muscle cell proliferation, adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation through regulation of the notch signaling pathway. May also function in the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements; Belongs to the MEGF family.

Synonyms:  MEGF10,  MEGF10p,  hMEGF10,  Q96KG7,  KIAA1780 ...

Linkouts:  STRING  Pharos  UniProt  OMIM