Gene CLRN1
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Also known as
USH3, USH3A, clarin 1Overview
CLRN1 (Clarin 1) encodes a four-transmembrane protein expressed in the inner ear and retina. Clarin-1 is essential for the development and function of hair cells in the cochlea and photoreceptor cells in the retina, playing a critical role in both hearing and vision.Mutations in CLRN1 cause Usher syndrome type 3A (USH3A), characterized by progressive hearing loss and retinitis pigmentosa leading to vision impairment. Unlike other Usher syndrome types where hearing loss is congenital and stable, USH3A features progressive hearing loss that may begin in childhood or adolescence. The condition is particularly prevalent in Finnish and Ashkenazi Jewish populations.
Understanding your CLRN1 genetic status is important for individuals with progressive hearing and vision loss and for carrier screening in high-risk populations. Early diagnosis enables appropriate interventions and preparation for sensory changes.