CFAP53
Cilia and flagella associated protein 53 is a protein that in humans is encoded by the CFAP53 gene.[5]
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| Aliases | CFAP53, CCDC11, HTX6, cilia and flagella associated protein 53 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614759 MGI: 1921703 HomoloGene: 27056 GeneCards: CFAP53 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning.
References
- GRCh38: Ensembl release 89: ENSG00000172361 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000035394 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Cilia and flagella associated protein 53".
External links
- Human CFAP53 genome location and CFAP53 gene details page in the UCSC Genome Browser.
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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