DISEASES

Disease-gene associations mined from literature

Literature associating EMB and early infantile epileptic encephalopathy 24

EMB [ENSP00000302289]

Embigin; Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity); I-set domain containing

Synonyms:  EMB,  B7Z902,  D6RDX7,  Q6PCB8,  B7Z902p ...

Linkouts:  STRING  Pharos  UniProt  OMIM