CFAP53

CFAP53
Identifiers
AliasesCFAP53, CCDC11, HTX6, cilia and flagella associated protein 53
External IDsOMIM: 614759; MGI: 1921703; HomoloGene: 27056; GeneCards: CFAP53; OMA:CFAP53 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

220136

74453

Ensembl

ENSG00000172361

ENSMUSG00000035394

UniProt

Q96M91

Q9D439

RefSeq (mRNA)

NM_145020

NM_028948

RefSeq (protein)

NP_659457

NP_083224

Location (UCSC)Chr 18: 50.23 – 50.27 MbChr 18: 74.42 – 74.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cilia and flagella associated protein 53 is a protein that in humans is encoded by the CFAP53 gene.[5]

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172361 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035394 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Cilia and flagella associated protein 53".

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. S2CID 2589154.

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


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