Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 284252
MIM: 613420
HGNC: 18249
Ensembl: ENSG00000134504
Variants:
dbSNP: 284252
ClinVar: 284252
TCGA: ENSG00000134504
COSMIC: KCTD1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38113115 | 2023 | KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis. | 3 |
| 38113115 | 2023 | KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis. | 3 |
| 33440155 | 2021 | Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron. | 10 |
| 33440155 | 2021 | Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron. | 10 |
| 32553120 | 2020 | AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis. | 16 |
| 33000225 | 2020 | KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling. | 11 |
| 32553120 | 2020 | AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis. | 16 |
| 33000225 | 2020 | KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling. | 11 |
| 31324836 | 2019 | Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants. | 16 |
| 31324836 | 2019 | Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants. | 16 |
| 26334369 | 2016 | Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. | 33 |
| 27596723 | 2016 | Bivalent Copper Ions Promote Fibrillar Aggregation of KCTD1 and Induce Cytotoxicity. | 6 |
| 26334369 | 2016 | Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. | 33 |
| 27596723 | 2016 | Bivalent Copper Ions Promote Fibrillar Aggregation of KCTD1 and Induce Cytotoxicity. | 6 |
| 23541344 | 2013 | Mutations in KCTD1 cause scalp-ear-nipple syndrome. | 39 |
Citation
Dessen P
KCTD1 (potassium channel tetramerization domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64817/kctd1-(potassium-channel-tetramerization-domain-containing-1)
