This gene encodes a member of the GTP-binding elongationnfactor family. It is expressed in multiple tissues with the highestnexpression in heart and skeletal muscle. The intergenic region ofnthis gene and the MYB gene has been identified to be a quantitativentrait locus (QTL) controlling fetal hemoglobin level, and thisnregion influnces erythrocyte, platelet, and monocyte counts as wellnas erythrocyte volume and hemoglobin content. DNA polymorphisms atnthis region associate with fetal hemoglobin levels and pain crisesnin sickle cell disease. A single nucleotide polymorphism in exon 1nof this gene is significantly associated with severity innbeta-thalassemia/Hemoglobin E. Multiple alternatively splicedntranscript variants encoding different protein isoforms have beennfound for this gene.
应用类型
WB
免疫原
This HBS1L antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 460-486 amino acids from the Central region of human HBS1L.
