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- Table of Contents
Facts about Whirlin.
Involved in the maintenance of the hair bundle ankle area, which joins stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex which seems to play a role in regulating intracellular protein transport.
Human | |
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Gene Name: | WHRN |
Uniprot: | Q9P202 |
Entrez: | 25861 |
Belongs to: |
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No superfamily |
Whirlin
Mass (kDA):
96.558 kDA
Human | |
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Location: | 9q32 |
Sequence: | 9; NC_000009.12 (114402078..114505500, complement) |
Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Photoreceptor inner segment. Cell junction, synapse. Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the conne
PMID: 11973626 by Mustapha M., et al. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
PMID: 12833159 by Mburu P., et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.