KCTD3 Chromosome 1
Potassium channel tetramerization domain containing 3
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What This Gene Does
This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"WD repeat domain containing|BTB domain containing|KCTD family"
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000136636
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763263618 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2464577479 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |