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
Number of entries/variants: 2
IthaScore
Sequence Viewer
Publications / Origin
- 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
- Dallos P, Zheng J, Cheatham MA, Prestin and the cochlear amplifier., J. Physiol. (Lond.) , 576(0), 37-42, 2006 PubMed
- 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
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-05 17:10:02 | The IthaGenes Curation Team | Created |