KCNQ4

KCNQ4

Notation for a gene for DFNA2.

KCNQ4

A gene on chromosome 1p34 that encodes a K+ channel which regulates neuronal excitability, especially in the sensory cells of the cochlea. The current is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, an anti-convulsant. KCNQ4 protein can form a homomultimeric K+ channel or heteromultimeric K+ channel with the KCNQ3 protein product.

Molecular pathology
KCNQ4 mutations are associated with non-syndromic sensorineural deafness type 2.
References in periodicals archive ?
La regulacion por una parte del gen del canal de potasio Kcnq4 depende de TR[alfa]1 en tanto que la expresion del gen de la proteina motora prestina Slc26a5 es regulada por las isoformas [beta].
Thyroid hormone receptors TRa1pha1 and TRbeta differentially regulate gene expression of Kcnq4 and prestin during final differentiation of outer hair cells.
KCNQ4, a novel potassium chananel expressed in sensory outer hair cells, is mutated in dominant deafness.
Now they hope the KCNQ4 gene find paves the way for drugs to prevent deafness - and bring relief to Britain's 6.5million over-60s affected.
Significant differences between susceptible and resistant workers were found in the sequence of three genes - KCNE1, KCNQ1 and KCNQ4.
Now they hope the KCNQ4 gene discovery paves the way for drugs to prevent deafness and bring relief to Britain's 6.5million over-60s affected.
For the last two decades, several genetic studies were performed to identify the NIHL susceptibility genes and among them various NIHL susceptibility genes have been known to involved in different cellular pathways such as the genes involved in the potassium recycling pathway (Kcnql, Kcnq4, kcnel, Kcnj10, Gjbl, Gjb2, and Gjb4) [51, 52], oxidative stress gene (Sod2, Cat, Gstml, and Pon2) [53, 54], heat shock protein genes (Hsp70) [55], and monogenic deafness genes (Myh14 and Pcdh15) [56].
Most cases of ADNSHHI are characterized by postlingual progressive sensorineural hearing loss, with the age of onset mostly being in the second or the 3 [sup]rd year, such as is the case with KCNQ4 , [sup][11] GJB3 , [sup][12] and MYH14 .
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.