Coiled-coil domain containing 115
Coiled-coil domain containing 115 (CCDC115) is a protein that in humans is encoded by the CCDC115 gene. This protein is a part of the Coiled-coil domain family, which is characterized by the presence of two or more alpha-helices that are wound around each other in a supercoil.
Function[edit | edit source]
The exact function of CCDC115 is not fully understood. However, it is known to be involved in the endoplasmic reticulum-associated degradation (ERAD) pathway, which is responsible for the degradation of misfolded proteins in the endoplasmic reticulum.
Clinical significance[edit | edit source]
Mutations in the CCDC115 gene have been associated with a form of congenital disorders of glycosylation (CDG). CDG are a group of genetic disorders caused by defects in the process of protein glycosylation. The specific form associated with CCDC115 mutations is known as CDG type II, which is characterized by a wide range of clinical symptoms, including neurological problems, growth retardation, and coagulation defects.
See also[edit | edit source]
- Coiled coil
- Congenital disorders of glycosylation
- Endoplasmic reticulum-associated protein degradation
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
