DCHS1 explained

Protein dachsous homolog 1, also known as protocadherin-16 (PCDH16) or cadherin-19 (CDH19) or cadherin-25 (CDH25) or fibroblast cadherin-1 (FIB1), is a protein that in humans is encoded by the DCHS1 gene.^{[1] [2]}

Function

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing.^[1]

Clinical significance

Mutations in this gene have been shown to cause mitral valve prolapse^[3]

Further reading

• Rose JE, Behm FM, Drgon T . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. . Mol. Med. . 16 . 7–8 . 247–53 . 2010. 20379614 . 10.2119/molmed.2009.00159 . 2896464. etal.
• Nakajima D, Nakayama M, Kikuno R . Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs. . Brain Res. Mol. Brain Res. . 94 . 1–2 . 85–95 . 2001 . 11597768 . 10.1016/S0169-328X(01)00218-2. etal.

Notes and References

1. Web site: Entrez Gene: dachsous 1 (Drosophila).
2. Matsuyoshi N, Imamura S . Multiple cadherins are expressed in human fibroblasts . Biochem. Biophys. Res. Commun. . 235 . 2 . 355–8 . June 1997 . 9199196 . 10.1006/bbrc.1997.6707 .
3. Web site: Mutations in the DCHS1 Gene Cause Mitral Valve Prolapse In Humans . Ashg.org . 2013-11-22 . 2013-10-29 . https://web.archive.org/web/20131029192047/http://www.ashg.org/2013meeting/abstracts/fulltext/f130122729.htm . dead .