|Western Blot (WB)||Assay-Dependent|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Recombinant fragment corresponding to a region within amino acids 1 and 190 of HBS1L|
|Purification||Antigen affinity chromatography|
|Storage buffer||PBS, pH 7, with 20% glycerol|
|Storage conditions||-20° C, Avoid Freeze/Thaw Cycles|
This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq].
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Protein Aliases: EF-1a; eRF3 family member; ERF3-similar protein; ERFS; HBS1; HBS1-like protein; HBS1-like S. cerevisiae; HBS1-like translational GTPase; Hsp70 subfamily B suppressor 1-like protein; HSPC276
Gene Aliases: EF-1a; eRF3c; ERFS; HBS1; HBS1L; HSPC276; KIAA1038
UniProt ID: (Human) Q9Y450
Entrez Gene ID: (Human) 10767
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