HBS1L Antibody (Center)

Q6AXM7; Q69ZS7; Q2KHZ2; NP_001138630.1

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.

10767

H, M

75473

HUMAN

NP_001138630.1; NP_001138679.1; NP_006611.1