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: 9851
MIM: 617112
HGNC: 29110
Ensembl: ENSG00000198920
Variants:
dbSNP: 9851
ClinVar: 9851
TCGA: ENSG00000198920
COSMIC: KIAA0753
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34523780 | 2022 | Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. | 1 |
| 34523780 | 2022 | Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. | 1 |
| 34241634 | 2021 | A ciliopathy complex builds distal appendages to initiate ciliogenesis. | 19 |
| 34711653 | 2021 | CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum. | 2 |
| 34241634 | 2021 | A ciliopathy complex builds distal appendages to initiate ciliogenesis. | 19 |
| 34711653 | 2021 | CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum. | 2 |
| 28220259 | 2017 | Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. | 20 |
| 29138412 | 2017 | Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. | 11 |
| 28220259 | 2017 | Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. | 20 |
| 29138412 | 2017 | Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. | 11 |
Citation
Dessen P
KIAA0753 (KIAA0753)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64861/kiaa0753-(kiaa0753)
