**Key characteristics:**
- CELP is a pseudogene gene, meaning it is not directly coding for a protein but is a copy that is not functional.
- It is located on chromosome 17q21.1.
- It is a large gene with a size of approximately 1.2 million base pairs.
- It contains multiple exons and intron regions.
- It is expressed in a variety of cell types, suggesting that it plays a role in maintaining cellular homeostasis.
**Pathways and functions:**
- CELP is involved in the regulation of epithelial cell function.
- It is expressed in cells that line the gastrointestinal tract, suggesting that it is involved in maintaining epithelial barrier function.
- It is also expressed in cells that are involved in the differentiation of the small intestinal epithelium.
- It is involved in the regulation of pancreatic secretion.
- It is also involved in the regulation of the immune system.
**Clinical significance:**
- Mutations in CELP have been linked to several human diseases, including celiac disease, pancreatitis, and inflammatory bowel disease.
- In celiac disease, mutations in CELP are responsible for the inability of the small intestine to absorb gluten, a protein found in wheat, barley, and rye.
- In pancreatitis, mutations in CELP are also responsible for the inflammation of the pancreas.
- In inflammatory bowel disease, mutations in CELP are associated with the development of inflammatory bowel symptoms, such as diarrhea and abdominal pain.
**Overall, CELP is a key gene that plays a vital role in maintaining cellular homeostasis in the gastrointestinal tract and the immune system.**
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.
