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: 154881
MIM: 611725
HGNC: 21957
Ensembl: ENSG00000243335
Variants:
dbSNP: 154881
ClinVar: 154881
TCGA: ENSG00000243335
COSMIC: KCTD7
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38231304 | 2024 | KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature. | 0 |
| 38732215 | 2024 | KCTD Proteins Have Redundant Functions in Controlling Cellular Growth. | 0 |
| 38231304 | 2024 | KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature. | 0 |
| 38732215 | 2024 | KCTD Proteins Have Redundant Functions in Controlling Cellular Growth. | 0 |
| 34866617 | 2022 | KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature. | 4 |
| 35921411 | 2022 | KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. | 6 |
| 34866617 | 2022 | KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature. | 4 |
| 35921411 | 2022 | KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. | 6 |
| 33970744 | 2021 | Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. | 3 |
| 34469883 | 2021 | Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review. | 1 |
| 34709740 | 2021 | BTB/POZ domain-containing protein 7/hypoxia-inducible factor 1 alpha signalling axis modulates hepatocellular carcinoma metastasis. | 3 |
| 33970744 | 2021 | Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. | 3 |
| 34469883 | 2021 | Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review. | 1 |
| 34709740 | 2021 | BTB/POZ domain-containing protein 7/hypoxia-inducible factor 1 alpha signalling axis modulates hepatocellular carcinoma metastasis. | 3 |
| 30295347 | 2018 | KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. | 27 |
Citation
Dessen P
KCTD7 (potassium channel tetramerization domain containing 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64829/kctd7-(potassium-channel-tetramerization-domain-containing-7)
