SLC26A5 (Prestin)
Solute Carrier Family 26 Member 5 – Outer Hair Cell Motor Protein
Gene Information Card
| Symbol | SLC26A5 |
|---|---|
| Full Name | Solute Carrier Family 26 Member 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 375611 ncbi.nlm.nih.gov/gene/375611 |
| Ensembl ID | ENSG00000170615 |
| UniProt ID | P58743 |
| OMIM ID | 604943 |
| HGNC ID | 11018 |
| Aliases | PRESTIN, DFNB61 |
Description
SLC26A5 encodes prestin, a transmembrane motor protein expressed in cochlear outer hair cells (OHCs). Prestin is essential for OHC electromotility, which amplifies sound-induced vibrations and enables high-frequency hearing. It belongs to the SLC26 anion transporter family but functions primarily as a voltage-dependent motor rather than a transporter. Mutations in SLC26A5 cause autosomal recessive nonsyndromic hearing loss DFNB61.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 61 (DFNB61) | Loss-of-function mutations in SLC26A5 disrupt OHC electromotility, reducing cochlear amplification and causing sensorineural hearing loss | ClinVar, OMIM |
| Age-related hearing loss (presbycusis) | Reduced prestin expression or function contributes to progressive hearing loss with aging | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea (inner ear) | High | Tissue-specific |
| Brain | Low | GTEx |
| Testis | Low | GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Outer hair cells (OHCs) | High | Primary cell type |
| HEK293 | Not expressed | Negative control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1546C>T (p.Arg516Cys) | Missense | Rare | Loss of motor function; associated with DFNB61 |
| c.1619G>A (p.Arg540His) | Missense | Rare | Reduced electromotility; hearing loss |
| c.1855G>A (p.Val619Met) | Missense | Rare | Impaired prestin activity |
Mutation functional classification
Loss of Function (LOF)
Most DFNB61-associated missense and nonsense mutations reduce or abolish prestin's motor activity, leading to hearing loss.
Gain of Function (GOF)
Not reported for SLC26A5.
Dominant Negative (DN)
Not reported; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • monoatomic anion channel activity (GO:0005216) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • sensory perception of sound (GO:0007605) |
| • integral component of membrane (GO:0016021) | • external encapsulating structure (GO:0030312) |
| • motor activity (GO:0042629) | • transmembrane transport (GO:0055085) |
Pathways
• SLC26A5 is not currently listed in major curated pathway databases (e.g.
• KEGG
• Reactome) as part of a canonical signaling pathway.
Protein Summary
Prestin (SLC26A5) is a 744-amino-acid transmembrane protein with 12 predicted membrane-spanning domains. It functions as a voltage-sensitive motor that undergoes rapid conformational changes in response to membrane potential, driving OHC somatic electromotility. This motor activity is essential for cochlear amplification and normal hearing. Prestin does not mediate significant anion transport despite its SLC26 family membership.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC26A5 Knockout HEK293 Cell Line | EDJ-KQ15319 | Human | 375611 | Details Get a Quote |
| SLC26A5 Knockout HeLa Cell Line | EDJ-KQ59929 | Human | 375611 | Details Get a Quote |
| SLC26A5 Knockout A-549 Cell Line | EDJ-KQ68390 | Human | 375611 | Details Get a Quote |
| SLC26A5 Knockout HCT 116 Cell Line | EDJ-KQ76770 | Human | 375611 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
