DISEASES

Disease-gene associations mined from literature

Literature associating GPM6A and early infantile epileptic encephalopathy 28

GPM6A [ENSP00000280187]

Neuronal membrane glycoprotein M6-a; Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G- protein-coupled receptors (GPCRs); enhances internalization and recycling of mu-type opioid receptor.

Synonyms:  GPM6A,  GPM6Ap,  hGPM6A,  D6R9D2,  D6R9T7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM