KCTD1 Chromosome 18
Potassium channel tetramerization domain containing 1
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What This Gene Does
This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"BTB domain containing|MicroRNA protein coding host genes|KCTD family"
Locus Type
gene with protein product
Location
18q11.2
Ensembl
ENSG00000134504
Associated Conditions (1)
Scalp-ear-nipple syndrome
Key Variants
RS139319145
Conflicting classifications of pathogenicity
Health Risk
RS151239539
Conflicting classifications of pathogenicity
Health Risk
RS201783160
Conflicting classifications of pathogenicity
Health Risk
RS759221642
Conflicting classifications of pathogenicity
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS963330003
Conflicting classifications of pathogenicity
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS2510943436
Likely pathogenic
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS587777003
Likely pathogenic
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS587776998
Pathogenic
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS587776999
Pathogenic
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS587777000
Pathogenic
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS587777001
Pathogenic
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
RS587777002
Pathogenic
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139319145 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151239539 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201783160 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759221642 | Health Risk | Conflicting classifications of pathogenicity | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS963330003 | Health Risk | Conflicting classifications of pathogenicity | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS2510943436 | Health Risk | Likely pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777003 | Health Risk | Likely pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587776998 | Health Risk | Pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587776999 | Health Risk | Pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777000 | Health Risk | Pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777001 | Health Risk | Pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777002 | Health Risk | Pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS878853124 | Health Risk | Pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS878853125 | Health Risk | Pathogenic | Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS886041986 | Health Risk | Pathogenic | — |