基因名:
HBS1L
产品别名:
EF-1a; ERFS; HBS1; HSPC276; eRF3c; HBS1L; HBS1 like translational GTPase; HBS1 like translational GTPase; HBS1-like protein; ERF3-similar protein; Hsp70 subfamily B suppressor 1-like protein; eRF3 family member; hbs1样蛋白;
背景信息:
HBS1L is a 684 amino acid protein that belongs to the GTP-binding elongation factor family and exists as multiple alternatively spliced isoforms. Expressed in kidney, brain, heart, placenta, liver, muscle and pancreas, HSB1L is thought to play a role in controlling fetal hemoglobin levels, specifically influencing platelet, monocyte and erythrocyte hemoglobin content. The gene encoding HBS1L maps to a locus on human chromosome 6 that is associated with sickle cell anemia and β-thalassemia, suggesting a role for HBS1L in the pathogenesis of blood disorders.