HBQ1
Description
The HBQ1 (hemoglobin subunit theta 1) is a protein-coding gene located on chromosome 16.
The HBQ1 gene encodes Hemoglobin subunit theta-1, a protein found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. It is thought to be expressed very early in embryonic life, potentially before 5 weeks. HBQ1 is part of the human alpha-globin gene cluster, which includes five functional genes and two pseudogenes. The order of these genes is 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research suggests that HBQ1 is transcriptionally active and plays a functional role in specific cells, potentially those of early erythroid tissue.
HBQ1 is also known as HBQ.
Associated Diseases
- alpha thalassemia
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- primary familial polycythemia due to EPO receptor mutation
- alpha thalassemia-intellectual disability syndrome type 1
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- delta-beta-thalassemia
- erythrocytosis, familial, 6
- erythrocytosis, familial, 3
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
