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Three probands with progressive mild to moderate hearing loss were found among 40 subjects with autosomal recessive non-syndromic hearing loss to segregate homozygous STRC deletions and gene to pseudogene conversion.
we hypothesized that the p.Q1353X variation in the STRC gene is the causative mutation for hearing loss.
STRC is a major contributor to DFNB16 congenital hearing impairment.
The data suggest that STRC may be a common contributor to NBSNHI among GJB2 (show GJB2 ELISA Kits) mutation negative probands, especially in those with mild to moderate hearing impairment.
Stereocilin was detected in association with horizontal top connectors, lateral links that join adjacent stereocilia within the outer hair cell's hair bundle
This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15\; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness.