SH2D3C
The sh2d3c Gene: A Key Player in Health and Disease
Description
The sh2d3c gene provides instructions for creating a protein called SH2 domain-containing protein 3C (SH2D3C). This protein is found in various tissues throughout the body, including the immune system, brain, and liver. SH2D3C plays a crucial role in several cellular processes, including the regulation of the immune response, cell growth and differentiation, and signal transduction.
Associated Diseases
Mutations or variations in the sh2d3c gene have been linked to a range of diseases, including:
- Autoimmune disorders: SH2D3C deficiency has been associated with an increased risk of autoimmune diseases, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis.
- Immunodeficiency: Defects in SH2D3C can lead to immunodeficiency disorders, characterized by weakened immune function and an increased susceptibility to infections.
- Cancer: Alterations in SH2D3C have been linked to the development of certain types of cancer, such as B-cell lymphoma and lung cancer.
- Neurological disorders: Variations in SH2D3C may contribute to the development of neurological disorders, including autism spectrum disorder and schizophrenia.
Did you Know ?
Studies have shown that approximately 1-2% of the population carries genetic variations in the sh2d3c gene. However, the frequency of these variations can differ significantly among different ethnic groups.
