CDH12
CDH12 is a gene that in humans encodes the protein Cadherin 12, which is a type of cadherin. Cadherins are a class of type-1 transmembrane proteins that play important roles in cell adhesion, ensuring that cells within tissues are bound together. They are dependent on calcium (Ca2+) ions to function, hence their name.
Function[edit | edit source]
The CDH12 gene is part of the cadherin superfamily, which includes calcium-dependent adhesion proteins. Cadherins are integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The encoded protein is a type 2 (atypical) cadherin, which is characterized by an extracellular domain consisting of 7 cadherin repeats. The protein also has a unique cytoplasmic domain and is involved in the regulation of the neural crest migration and neuronal differentiation.
Clinical significance[edit | edit source]
Alterations in the CDH12 gene have been associated with various diseases. For example, mutations in this gene have been linked to congenital heart disease and neurodevelopmental disorders. Further research is needed to fully understand the role of CDH12 in human health and disease.
See also[edit | edit source]
- Cadherin
- Calcium-dependent adhesion proteins
- Neural crest
- Neuronal differentiation
- Congenital heart disease
- Neurodevelopmental disorders
References[edit | edit source]
| CDH12 Resources | |
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Contributors: Prab R. Tumpati, MD
