| Transporter Information: | |
| Name: | potassium voltage-gated channel, KQT-like subfamily, member 4 |
|---|---|
| Symbol: | KCNQ4 |
| TC: | 1.A.1.15.4 |
| Locations: | 1p34 |
| Aliases: | Kv7.4 |
| GenBank: | AF105202 |
| Swiss-Prot: | P56696 |
| Accession Number: | NM_172163 |
| GDB | GDB:439046 |
| LocusLink | 9132 |
| OMIM | 603537 |
| PubMed (10025409): | Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S,Petit C, Jentsch TJ. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, ismutated in dominant deafness.Cell. 1999 Feb 5;96(3):437-46. PMID: 10025409 [PubMed - indexed for MEDLINE] Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1 cause deafness by affecting endolymph secretion, the mechanism leading to KCNQ4-related hearing loss is intrinsic to outer hair cells. |
>sp|P56696|CIQ4_HUMAN Potassium voltage-gated channel subfamily KQT member 4 (Potassium channel alpha subunit KvLQT4) (KQT-like 4) - Homo sapiens (Human).
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPGPGSGSGSACGQRSSAAHKRY
RRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLSTIQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRY
RGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLAAGFALLGISFFALPAGILGS
GFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVR
RAPVPDGAPSRYPPVATCHRPGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQ
KSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRILKFLVAKRKFKETLRPYDVKD
VIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKGDKGPSDAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFY
SRCLRSGTSASLGAVQVPLFDPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD
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