KCNH1


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KCNH1

A gene on chromosome 1q32.2 that encodes a pore-forming alpha subunit of the voltage-gated, potassium channel subfamily H, which is part of a non-inactivating delayed rectifier potassium channel. It is activated in the embryo with myoblast differentiation; it is highly expressed in brain and in myoblasts.

Molecular pathology
KCNH1 is overexpressed in some cancers.
References in periodicals archive ?
Crawford et al., "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy," Nature Genetics, vol.
Tsurusaki et al., "De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures," Journal of Human Genetics, vol.
Heinemann, "Cysteines control the N- and C-linker-dependent gating of KCNH1 potassium channels," Biochimica et Biophysica Acta (BBA)--Biomembranes, vol.
Gonzales et al., "KCNH1 potassium channels are expressed in cervical cytologies from pregnant patients and are regulated by progesterone," Reproduction, vol.
Sahoo et al., "Kcnh1 voltage-gated potassium channels are essential for early zebrafish development," Journal of Biological Chemistry, vol.
Caption: Figure 1: Schematic representation of a KCNH1 subunit (NM_002238.3) indicating a PI[P.sub.2] binding site (blue), three CaM binding domains (magenta), two glycosylated positions (green balls), four oxidative modification sites (red stars), and two nuclear localization signals (NLS) (orange).