KDELC2
KDELC2 Gene and Associated Diseases
Description
KDELC2 (KDEL containing 2) is a gene encoding a protein involved in the ER (endoplasmic reticulum) quality control pathway. This pathway monitors and removes misfolded or damaged proteins from the ER to prevent their accumulation and cellular toxicity.
The KDELC2 protein contains a KDEL sequence at its C-terminus, which facilitates its retrieval from the Golgi apparatus back to the ER. Once in the ER, KDELC2 participates in the degradation of misfolded proteins through a process known as ER-associated protein degradation (ERAD).
Associated Diseases
Mutations in the KDELC2 gene have been linked to a range of human diseases, primarily affecting the liver and pancreas, including:
- Hepatic ERAD-related liver disease (HERLD): A rare genetic disorder characterized by progressive liver damage and dysfunction due to impaired ER protein degradation.
- Progressive familial intrahepatic cholestasis (PFIC): A group of inherited liver disorders leading to chronic accumulation of bile in the liver.
- Pancreatic agenesis: A congenital condition in which the pancreas is absent at birth.
- Diabetes mellitus: Mutations in KDELC2 have been associated with an increased risk of developing type 1 diabetes.
Did you Know ?
Approximately 25% of all familial cases of PFIC are caused by mutations in the KDELC2 gene.
