Biology:CFAP53

Generic protein structure example

Cilia and flagella associated protein 53 is a protein that in humans is encoded by the CFAP53 gene.

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.

External links

• Human CFAP53 genome location and CFAP53 gene details page in the UCSC Genome Browser.

Further reading

• "A human laterality disorder associated with recessive CCDC11 mutation". Journal of Medical Genetics 49 (6): 386–90. June 2012. doi:10.1136/jmedgenet-2011-100457. PMID 22577226. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.