May play a role in actin filament architecture in developing stereocilia of sensory cells.
Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis. Highly expressed in fetal cochlea.
Involvement in disease
Defects in GRXCR1 are the cause of deafness autosomal recessive type 25 (DFNB25) [MIM:613285]. DFNB25 is characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals and vestibular dysfunction is observed in some affected individuals.
Belongs to the GRXCR1 family. Contains 1 glutaredoxin domain.
Cell projection > stereocilium. Cell projection > microvillus. Cell projection > kinocilium. In the inner ear, localized to stereocilia, apical microvilli of sensory cells and kinocilia.