KCNQ4

Official Full Name

potassium voltage-gated channel subfamily Q member 4

Organism

Homo sapiens

GeneID

9132

Background

The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Synonyms

DFNA2; KV7.4; DFNA2A;

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Detailed Information

Recent Research

The KCNQ (Kv7) gene family is consists of five members that encode proteins for voltage-gated potassium channels that play important roles in the heart, brain, kidney and inner ear. Mutations of KCNQ cause various syndromic diseases.

KCNQ4 belongs to the voltage gated potassium channel family. The KCNQ4 gene consists of 14 exons. It is a protein with 695 amino acid residues with a hydrophobic P-loop region and six trans-membrane domains, in between the transmembrane domain S5 and S6. The fourth transmembrane domain includes a voltage sensor responsible for electrically driven conformational changes that cause the channel to open. Furthermore, KCNQ4 mediates M-type Kβ currents. M-current may involve the regulation of the excitability of neurons, which is characterized by the regulation of neurotransmitters. Functional channels are assembled from the tetramers of the KCNQ4 subunit, usually in the form of homotetrameric.

KCNQ4 is localized in outer and inner hair cells and plays a role in potassium recycling in the inner ear. The function of outer hair cells is mainly to regulate the cochlea by converting its receptor potential into mechanical force. Mechanical stimulation of the stereocilia of hair cells results in an influx of Kβ ion into it by the large electrical voltage (~150 mV) across apical membranes. The potassium taken up by hair cells leaves these cells via their basolateral membrane. KCNQ4 is important for the basolateral removal of Kβ from hair cells. Mutations in KCNQ4 will disrupt Kβ ion removal from outer hair cells leads to slow degeneration of these cells.

Furthermore, KCNQ4 is closely related to autosomal dominant nonsyndromic (SNHL). It is reported that the hearing loss associated with KCNQ4 is usually late and high frequency, and gradually aggravates over time. More than 20 pathologic mutations have been identified in KCNQ4 and they are mostly missense or non-truncating deletion mutations in the pore domain with a dominant-negative mechanism that causes progressive, predominantly high-frequency hearing impairment. Moreover, some mutations in KCNQ4 will cause autosomal dominant LQT1 that has a milder phenotype and the autosomal recessive Lange-Nielsen syndrome (JLNS) that has a more severe phenotype.

References:

Adhikary B, et al. Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India. International Journal of Pediatric Otorhinolaryngology, 2017, 100:35-38.
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss. Biochemical and Biophysical Research Communications, 2015, 463(4):582-586.
Ishikawa K, et al. A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations. Acta oto-laryngologica, 2014, 134(6):557.

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