CELSR3

CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3) is a protein that in humans is encoded by the CELSR3 gene. This protein is a member of the cadherin superfamily, proteins that mediate cell adhesion in a variety of tissues.

Function

The CELSR3 protein is a type of flamingo cadherin, which are characterized by nine cadherin domains, seven EGF-like domains and two laminin A G-type repeats in their extracellular region. They also have seven transmembrane domains, indicating that they are G protein-coupled receptors. CELSR3 is involved in the regulation of planar cell polarity, especially in the formation of the nervous system.

Clinical significance

Mutations in the CELSR3 gene have been associated with congenital hydrocephalus, a condition characterized by an accumulation of cerebrospinal fluid in the brain, leading to increased pressure inside the skull and progressive enlargement of the head.

See also

• Cadherin
• EGF-like
• G protein-coupled receptor
• Planar cell polarity
• Congenital hydrocephalus

References

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External links

• GeneReviews/NCBI/NIH/UW entry on CELSR3

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