Disease-gene associations mined from literature

Literature associating ESPNL and autosomal dominant auditory neuropathy 1

ESPNL [ENSP00000339115]

Espin-like protein; Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing; Ankyrin repeat domain containing

Synonyms:  ESPNL,  C9J6L8,  Q6ZVH7,  C9J6L8p,  hC9J6L8 ...

Linkouts:  STRING  Pharos  UniProt