whirlin (autosomal recessive deafness type 31 protein, WHRN, DFNB31, KIAA1526)

Function

• necessary for elongation & maintenance of stereocilia in the inner & outer hair cells in the organ of Corti (inner ear)
• binds CASK via the C-terminal PDZ region
• interacts with USH2A & GPR98/MASS1

Structure

• contains 3 PDZ (DHR) domains

Compartment

• cytoplasm
• detected in stereocilia in cochlear hair cells
• co-localizes with growing ends of actin filaments

Alternative splicing

named isoforms=4

Expression

• inner hair cells & in outer hair cells in cochlea

Pathology

• defects in WHRN are a cause of autosomal recessive deafness type 31

More general terms

• cytoskeletal protein

Database

• OMIM: https://mirror.omim.org/entry/607084
• OMIM: https://mirror.omim.org/entry/607928
• UniProt: http://www.uniprot.org/uniprot/Q9P202.html