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.
Immunogen Information
Immunogen
Recombinant fusion protein of human HBS1L
Gene ID
10767
Swissprot
Q9Y450
Synonyms
HBS1LEF-1aERFSHBS1HSPC276eRF3c
Calculated MW
25kDa/134kDa/135kDa
Observed MW
180kDa
Applications
Reactivity
Human,Mouse
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:1000
Concentration
1mg/mL
Storage Buffer
PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.