**Key characteristics:**
* The HBZP1 gene is approximately 1.5 million base pairs long.
* It contains 14 exons and 13 introns.
* The protein encoded by HBZP1 is a glycoprotein with a molecular weight of approximately 64,500 Da.
* It is expressed in a variety of cell types, including erythroid lineage cells, erythroblast, erythrocyte, macrophage, fibroblast, erythroid progenitor cell, epithelial cell, retinal pigment epithelial cell, dendritic cell, and primitive red blood cells.
**Pathways and functions:**
* The HBZP1 gene is involved in the production of hemoglobin, which is essential for the oxygen transport function of red blood cells.
* Hemoglobin is produced in the nucleus of red blood cells and then transported to the cytoplasm, where it is assembled with other proteins to form the hemoglobin protein.
* Hemoglobin transports oxygen from the lungs to the tissues, where it is released into the surrounding cells.
* Mutations in the HBZP1 gene have been linked to the development of several blood disorders, including sickle cell anemia and thalassemia.
**Clinical significance:**
* Mutations in the HBZP1 gene can cause the production of abnormal hemoglobin proteins, which can lead to the development of blood disorders.
* These disorders can cause various symptoms, including anemia, pale skin, and shortness of breath.
* Diagnosis of blood disorders caused by HBZP1 mutations typically involves blood tests to check for the presence of abnormal hemoglobin proteins.
* Treatment typically involves blood transfusions to replace the missing or defective hemoglobin proteins.
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.
