Disease-gene associations mined from literature

Literature associating KCNQ5 and refractive error

KCNQ5 [ENSP00000345055]

Potassium voltage-gated channel, KQT-like subfamily, member 5; Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Therefore, it is important in the regulation of neuronal excitability. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M- channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. As the native M-channel, the potassium channel composed of KCNQ3 and KCNQ5 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1.

Synonyms:  KCNQ5,  KCNQ5p,  hKCNQ5,  A6PVT6,  A6PVT7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM