PKHD1L1

Component of hair-cell stereocilia coat. Required for normal hearing.

Deafness, autosomal recessive, 124

DFNB124

A form of non-syndromic deafness characterized by progressive sensorineural hearing loss with onset at birth. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

None

The disease may be caused by variants affecting the gene represented in this entry.

• Membrane
• Single-pass membrane protein
• Cell projection
• Stereocilium membrane
• Predominantly located at the upper half of the stereocilia of inner ear outer hair cell.

Fibrocystin-L, Polycystic kidney and hepatic disease 1-like protein 1, PKHD1-like protein 1, PKHD1L1

• entrezGene:93035
• omim:607843
• swissprot:Q86WI1

Proteins

Immunology & Infectious Disease

465734Da