Login
Login

CFAP53

{{Short description|Protein-coding gene in humans}}

{{Infobox_gene}}

Cilia and flagella associated protein 53 is a protein that in humans is encoded by the CFAP53 gene.{{cite web | title = Entrez Gene: Cilia and flagella associated protein 53 | url = https://www.ncbi.nlm.nih.gov/gene/220136 }}

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

{{reflist}}

External links

  • {{UCSC gene info|CFAP53}}

Further reading

{{refbegin}}

  • {{cite journal | vauthors = Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O | title = A human laterality disorder associated with recessive CCDC11 mutation | journal = Journal of Medical Genetics | volume = 49 | issue = 6 | pages = 386–90 | date = June 2012 | pmid = 22577226 | doi = 10.1136/jmedgenet-2011-100457 | s2cid = 2589154 }}

{{refend}}

{{NLM content}}

{{gene-18-stub}}