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: 80217
MIM: 617558
HGNC: 26684
Ensembl: ENSG00000197748
Variants:
dbSNP: 80217
ClinVar: 80217
TCGA: ENSG00000197748
COSMIC: CFAP43
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34100391 | 2021 | Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families. | 5 |
| 34100391 | 2021 | Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families. | 5 |
| 32207550 | 2020 | Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella. | 3 |
| 32207550 | 2020 | Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella. | 3 |
| 29277146 | 2019 | Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). | 9 |
| 30904354 | 2019 | NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF). | 14 |
| 31004071 | 2019 | Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. | 39 |
| 29277146 | 2019 | Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). | 9 |
| 30904354 | 2019 | NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF). | 14 |
| 31004071 | 2019 | Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. | 39 |
| 29449551 | 2018 | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. | 83 |
| 29449551 | 2018 | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. | 83 |
| 28552195 | 2017 | Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. | 110 |
| 28552195 | 2017 | Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. | 110 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
CFAP43 (cilia and flagella associated protein 43)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61755/cfap43-(cilia-and-flagella-associated-protein-43)
