CFAP53 gene

cilia and flagella associated protein 53

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Aug 2015]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Heterotaxy, visceral, 6, autosomal

From UniProt:

Heterotaxy, visceral, 6, autosomal (HTX6): A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. [MIM:614779]

Cytogenetic Location: 18q21.1, which is the long (q) arm of chromosome 18 at position 21.1

Molecular Location: base pairs 50,227,193 to 50,266,522 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.1, which is the long (q) arm of chromosome 18 at position 21.1
  • CCDC11
  • HTX6