**Key characteristics**:
- It is located on chromosome 15q26.1
- It is composed of 21 exons and 13 introns.
- It is expressed in various cell types, including CD4-positive, alpha-beta thymocytes, B cells, CD8-positive, alpha-beta thymocytes, CD4-positive helper T cell, effector CD4-positive, alpha-beta T cell, adventitial cell, central nervous system macrophage, hematopoietic stem cell, vascular associated smooth muscle cell, and naive regulatory T cell.
**Pathways and functions**:
- The HLA K gene is involved in the presentation of antigens to T cells.
- It is expressed on professional antigen-presenting cells, including dendritic cells, macrophages, and B cells.
- When an antigen is presented by an MHC class I molecule, it binds to MHC class I molecules on the surface of a professional antigen-presenting cell.
- This interaction triggers the activation of T cells, which can then recognize and attack infected cells.
**Clinical significance**:
- Mutations in the HLA K gene have been linked to several autoimmune disorders, including rheumatoid arthritis, Crohn's disease, and psoriasis.
- These mutations can lead to the production of abnormal MHC class I molecules that can stimulate the immune system to attack healthy tissues.
- Understanding the role of the HLA K gene in autoimmune disorders has potential implications for the development of new therapies.
Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.
