**Key characteristics:**
* The gene is located on chromosome 13q31.2.
* It is a large gene, with a length of approximately 1.2 million base pairs.
* The gene contains multiple exons, which are segments of DNA that are translated into different proteins.
* The protein encoded by HBAP1 is a subunit of hemoglobin, a protein that is essential for the transport of oxygen in the blood.
**Pathways and functions:**
* The protein encoded by HBAP1 is expressed in multiple cell types, including enterocytes, stromal cells, and enterocytes of the epithelium of the large intestine.
* Enterocytes are cells that line the inside of the stomach and small intestine.
* Stromal cells are cells that provide support for epithelial cells.
* Enterocytes of the epithelium of the large intestine are responsible for the absorption of nutrients from food that is ingested through the mouth and stomach.
**Clinical significance:**
* Mutations in the HBAP1 gene have been linked to several human diseases, including sickle cell anemia.
* In sickle cell anemia, the HBAP1 gene is mutated in approximately 80% of cases.
* This mutation results in the production of a defective hemoglobin subunit, which leads to the formation of sickle-shaped red blood cells.
* Sickle-shaped red blood cells are less flexible than normal red blood cells, which can restrict blood flow to tissues. This can lead to pain, organ damage, and other health problems.
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.
