GeneID: 145



Names

Common Name: SLC26A5 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_023055.1 (SLC26A5)
HUGO Symbol: SLC26A5 Full Name: solute carrier family 26 member 5
Exons: 20 Introns: 19

Description:
SLC26A5 functions as a molecular motor in cochlear outer hair cells, inducing changes in cell length that act to amplify sound level. It is a member of the anion-transporter family SLC26A, involved in the electroneutral exchange of chloride and carbonate ions across the plasma membrane. It is based on a bidirectional voltage-to-force conversion and can operate at microsecond rates compared to conventional molecular motor proteins. Mutations in this gene are linked to neurosensory deafness. Polymorphisms in this gene associated with disease severity in thalassaemia patients. Multiple transcript variants encoding different isoforms have been found for this gene.

Synonyms: PRES , DFNB61

Comments:
N/A

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Zheng J, Shen W, He DZ, Long KB, Madison LD, Dallos P, Prestin is the motor protein of cochlear outer hair cells., Nature , 405(6783), 149-55, 2000 PubMed
  2. Dallos P, Zheng J, Cheatham MA, Prestin and the cochlear amplifier., J. Physiol. (Lond.) , 576(0), 37-42, 2006 PubMed
  3. Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
Created on 2016-05-05 17:10:02, Last reviewed on (Show full history)


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.