CELSR1
CELSR1 is a gene that encodes a member of the cadherin superfamily. The encoded protein is a receptor involved in the planar cell polarity (PCP) pathway, which is essential for tissue morphogenesis. Mutations in this gene have been associated with neural tube defects and congenital heart anomalies.
Function[edit | edit source]
CELSR1 is a member of the flamingo subfamily, part of the cadherin superfamily. The cadherin superfamily includes cadherin, protocadherin, desmoglein, desmocollin, and others. These proteins mediate cell adhesion and cohesion in various types of tissue. CELSR1 is a receptor involved in the planar cell polarity (PCP) pathway, which is essential for tissue morphogenesis.
Clinical significance[edit | edit source]
Mutations in the CELSR1 gene have been associated with neural tube defects and congenital heart anomalies. Neural tube defects are severe birth defects of the brain, spine, or spinal cord. Congenital heart anomalies are problems with the heart's structure that are present at birth. These conditions can affect the overall health and well-being of those affected.
Research[edit | edit source]
Research into the CELSR1 gene and its associated proteins is ongoing. Understanding the function and role of this gene in the body can lead to new treatments for conditions associated with mutations in the gene.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
