LOC100190940
Understanding Loc100190940: A Comprehensive Guide
Description
Loc100190940 is a gene located on chromosome 10q26.13. It plays a crucial role in cellular growth, development, and differentiation. Mutations in this gene have been linked to several inherited conditions and complex diseases.
Function
Loc100190940 encodes a protein known as E3 ubiquitin-protein ligase TRIM59. This protein is involved in various cellular processes, including:
- Cell cycle regulation: TRIM59 controls cell division by targeting proteins for degradation, ensuring the orderly progression of the cell cycle.
- Protein quality control: TRIM59 is involved in removing misfolded or damaged proteins from the cell, maintaining cellular homeostasis.
- Immune response: TRIM59 participates in the innate immune response by modifying viral proteins, preventing viral replication.
Associated Diseases
Mutations in Loc100190940 have been associated with several inherited conditions, including:
- Tripartite Alopecia: This condition is characterized by hair loss in three distinct areas: the scalp, eyebrows, and beard.
- Microcephaly: A neurodevelopmental disorder characterized by an abnormally small head size and intellectual disability.
- Coffin-Siris Syndrome: A rare genetic disorder involving facial dysmorphism, intellectual disability, and growth delays.
Additionally, mutations in Loc100190940 have been implicated in various complex diseases, such as:
- Cardiovascular disease: Mutations in Loc100190940 have been linked to an increased risk of developing coronary artery disease.
- Cancer: Alterations in Loc100190940 have been observed in certain types of cancer, including breast cancer and colorectal cancer.
Did you Know ?
A recent study found that a specific mutation in Loc100190940, known as the R435C mutation, is present in approximately 1% of the population. This mutation has been associated with an increased risk of developing tripartite alopecia, microcephaly, and Coffin-Siris syndrome.
