rs773544931
This variant is located in the SLC26A5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type ICase reportN=103Amitabh K. Bharadwaj et al.(2000)· Experimental Eye Research
Genomic studies in 103 Italian patients with non-syndromic hearing loss (NSHL) using targeted re-sequencing of 96 HHL genes followed by SNP arrays identified mutations in 31% of cases (37% familial, 26.3% sporadic), with TECTA and ACTG1 as major genes. The study identified 17 new alleles, two de novo ACTG1 variants, and the first case of uniparental disomy in LOXHD1, achieving an overall 51% detection rate when combined with GJB2.
About SLC26A5
This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
View all SLC26A5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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