KDELC1
KDELC1: A Protein with Diverse Roles and Implications
Description
KDELC1 (KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor) is a type I membrane protein that plays a crucial role in protein retention and localization within the endoplasmic reticulum (ER). It is a highly conserved protein found in eukaryotic cells and is composed of a short N-terminal cytoplasmic domain, a transmembrane domain, and a luminal C-terminal domain containing the KDEL retention signal.
Associated Diseases
Mutations in the KDELC1 gene have been linked to several human diseases, including:
- Congenital Disorder of Glycosylation Type 1d (CDG1d): A rare genetic disorder caused by mutations in the KDELC1 gene. It affects the protein quality control system in the ER, leading to the accumulation of misfolded proteins and impaired glycosylation. Symptoms can include developmental delays, seizures, and distinctive facial features.
- Type 2 Diabetes Mellitus (T2DM): Studies have shown an association between polymorphisms in the KDELC1 gene and increased risk of developing T2DM. The exact mechanism is still under investigation, but it may involve impaired ER stress response and insulin resistance.
- Neurodegenerative Diseases: Emerging evidence suggests that KDELC1 dysfunction may contribute to the development of neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. Misfolded proteins accumulating in the ER can induce ER stress and neuronal cell death.
Did you Know ?
According to a study published in the journal "Human Mutation," mutations in the KDELC1 gene account for approximately 5% of all cases of CDG1d.
