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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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