DISEASES

Disease-gene associations mined from literature

Literature associating EPB41 and serous labyrinthitis

EPB41 [ENSP00000345259]

Erythrocyte membrane protein band 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,  P11171,  Q1WWM3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM