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MCIDDS

Chr 11AR

potassium voltage-gated channel subfamily A member 4

Also known as: HBK4, HK1, HPCN2, HUKII, KCNA4L, KCNA8, KV1.4, MCIDDS

NCBI Gene: 3739 OMIM: 618284

This gene encodes a voltage-gated potassium channel that regulates the fast repolarizing phase of action potentials and influences neuronal excitability. Autosomal recessive mutations cause microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum. The phenotype involves multiple organ systems including the brain, eyes, and basal ganglia structures.

OMIM ResearchSummary from RefSeq, OMIM

Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatumMIM #618284

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

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