ESPNL

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Description

The ESPNL (espin like) is a protein-coding gene located on chromosome 2.

ESPNL binds to actin filaments but doesn't link them together. It plays a crucial role in the development and upkeep of stereocilia, the hair-like structures in inner ear hair cells, and in the formation of the staircase structure within them. This protein is essential for normal hearing.

ESPNL is also known as -.

Associated Diseases

• autosomal recessive nonsyndromic hearing loss 1B
• autosomal dominant nonsyndromic hearing loss 17
• deafness, aminoglycoside-induced
• autosomal dominant nonsyndromic hearing loss 7
• hearing loss, autosomal recessive
• autosomal dominant nonsyndromic hearing loss
• autosomal dominant nonsyndromic hearing loss 2A
• hearing loss, sensorineural, autosomal-mitochondrial type
• autosomal recessive nonsyndromic hearing loss 18A