Potassium voltage-gated channel subfamily H member 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''KCNH1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms.
Interactions
KCNH1 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
KCNB1
Potassium voltage-gated channel, Shab-related subfamily, member 1, also known as KCNB1 or Kv2.1, is a protein that, in humans, is encoded by the ''KCNB1'' gene.
Potassium voltage-gated channel subfamily B member one, or simply known as KCNB1, is ...
.
Function
The ''KCNH1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
encodes a highly conserved
voltage-gated potassium channel with predominant expression in the adult central nervous system.
Pathologies
Gabbett and colleagues described
Temple–Baraitser syndrome (TBS) in 2008, naming the condition after English
clinical geneticists Profs Karen Temple and Michael Baraitser. They then went on to demonstrate that ''
de novo'' missense mutations in the ''KCNH1'' gene cause deleterious gain of function in the
voltage-gated potassium channel, resulting in the multisystem developmental disorder. TBS is categorized by intellectual disabilities, epilepsy, typical facial features, and aplasia of the nails. Simons et al. demonstrated that mutational
mosaicism
Mosaicism or genetic mosaicism is a condition in multicellular organisms in which a single organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized ...
present in the mothers of some probands was responsible for their children's TBS phenotype. This is further evidence of the role that genetic mosaicism plays in the etiology of neurological disorders.
Type 1
Zimmermann–Laband syndrome was later found to be caused by similar mutations in ''KCNH1''. This has led some researchers to believe that type 1 Zimmermann-Laband and Temple-Baraitser syndromes are different manifestations of the same disorder.
See also
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Voltage-gated potassium channel
References
Further reading
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External links
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Human Disease Genes - ''KCNH1''
PAS-domain-containing proteins
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