DCHS1

Dachsous cadherin-related 1
Identifiers
Symbols	DCHS1 ; CDH19; CDH25; CDHR6; FIB1; PCDH16; VMLDS1
External IDs	OMIM: 603057 MGI: 2685011 HomoloGene: 2771 GeneCards: DCHS1 Gene
Gene ontology Molecular function • calcium ion binding Cellular component • intracellular • plasma membrane • membrane • integral component of membrane • apical part of cell Biological process • branching involved in ureteric bud morphogenesis • heart morphogenesis • homophilic cell adhesion via plasma membrane adhesion molecules • heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules • neural tube development • neurogenesis • hippo signaling • post-anal tail morphogenesis • ossification involved in bone maturation • digestive tract development • cochlea development Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8642	233651
Ensembl	ENSG00000166341	ENSMUSG00000036862
UniProt	Q96JQ0	E9PVD3
RefSeq (mRNA)	NM_003737	NM_001162943
RefSeq (protein)	NP_003728	NP_001156415
Location (UCSC)	Chr 11: 6.62 – 6.66 Mb	Chr 7: 105.75 – 105.79 Mb
PubMed search

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]

References

1. "Entrez Gene: dachsous 1 (Drosophila)".
2. Matsuyoshi N, Imamura S (June 1997). "Multiple cadherins are expressed in human fibroblasts". Biochem. Biophys. Res. Commun. 235 (2): 355–8. doi:10.1006/bbrc.1997.6707. PMID 9199196.
3. "Mutations in the DCHS1 Gene Cause Mitral Valve Prolapse In Humans". Ashg.org. Retrieved 2013-11-22. line feed character in |title= at position 24 (help)

Further reading

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

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