DISEASES

Disease-gene associations mined from literature

Literature associating EPB41 and congenital nystagmus 7

EPB41 [ENSP00000345259]

Protein 4.1; Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase .

Synonyms:  EPB41,  EPB41p,  hEPB41,  A0A1B0GWG0,  A0A2R8Y420 ...

Linkouts:  STRING  Pharos  UniProt  OMIM