CCDC11
CCDC11 Gene: A Comprehensive Overview
Description
The coiled-coil domain containing 11 (CCDC11) gene is located on chromosome 16q24.1. It encodes a protein of the same name that consists of 1,365 amino acids. The CCDC11 protein contains a conserved coiled-coil domain, which is involved in protein-protein interactions. It also has a putative nuclear localization signal, suggesting its role in nuclear processes.
Associated Diseases
Mutations in the CCDC11 gene have been linked to several diseases, including:
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Triple A Syndrome (Allgrove Syndrome): A rare genetic disorder characterized by achalasia, alacrima, and adrenal insufficiency. Triple A syndrome is caused by mutations in CCDC11 that lead to a defective CCDC11 protein, resulting in impaired neural development and function.
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Autoimmune Polyglandular Syndrome Types 1 and 2 (APS-1 and APS-2): Rare autoimmune disorders that involve the dysfunction of multiple endocrine glands. CCDC11 mutations have been identified in some cases of APS, suggesting its role in immune regulation.
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Celiac Disease: An autoimmune disorder that causes damage to the small intestine after ingesting gluten. Certain CCDC11 variants have been associated with an increased risk of celiac disease, although the exact mechanism is not yet fully understood.
Did you Know ?
A study published in the journal "Nature Genetics" estimated that approximately 1 in every 10,000 individuals carries a mutation in the CCDC11 gene. This suggests that CCDC11-related disorders may be more prevalent than previously thought.
