DISEASES

Disease-gene associations mined from literature

Literature associating EGFLAM and congenital muscular dystrophy-dystroglycanopathy type A

EGFLAM [ENSP00000346964]

Pikachurin; Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).

Synonyms:  EGFLAM,  D6RG24,  D6RJD2,  Q63HQ2,  D6RG24p ...

Linkouts:  STRING  Pharos  UniProt