HBG2
HBG2
The HBG2 gene, also known as Hemoglobin Subunit Gamma 2, is a gene that is located on the human chromosome 11. It is one of the two genes that encode the gamma subunit of fetal hemoglobin.
Function
The HBG2 gene is primarily expressed in the fetal liver, spleen and bone marrow. It encodes the gamma-G globin gene, which is a component of fetal hemoglobin. Fetal hemoglobin is present in fetuses and infants, and is replaced by adult-type hemoglobin after birth. The switch from fetal to adult hemoglobin is a complex process and is regulated by the locus control region (LCR) located upstream of the globin gene cluster.
Clinical significance
Mutations in the HBG2 gene can lead to conditions such as hereditary persistence of fetal hemoglobin (HPFH) and beta thalassemia, which are disorders that affect the body's ability to produce hemoglobin. In HPFH, individuals have elevated levels of fetal hemoglobin into adulthood, which can help to mitigate the symptoms of beta thalassemia.
See also
References
External links
- HBG2 at the National Center for Biotechnology Information
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