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MCIDDS
Chr 11ARpotassium voltage-gated channel subfamily A member 4
Also known as: HBK4, HK1, HPCN2, HUKII, KCNA4L, KCNA8, KV1.4, MCIDDS
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.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MCIDDS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MCIDDS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools