CFAP53

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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

• Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O (June 2012). "A human laterality disorder associated with recessive CCDC11 mutation". Journal of Medical Genetics. 49 (6): 386–90. 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.