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: 149465
MIM: 614259
HGNC: 26485
Ensembl: ENSG00000243710
Variants:
dbSNP: 149465
ClinVar: 149465
TCGA: ENSG00000243710
COSMIC: CFAP57
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36752199 | 2023 | Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. | 4 |
| 36752199 | 2023 | Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. | 4 |
| 32764743 | 2020 | Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. | 24 |
| 32764743 | 2020 | Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. | 24 |
| 21574244 | 2011 | Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. | 9 |
| 21574244 | 2011 | Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. | 9 |
Citation
Dessen P
CFAP57 (cilia and flagella associated protein 57)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61761/cfap57-(cilia-and-flagella-associated-protein-57)
