产品名称
HBS1L Rabbit Polyclonal Antibody (Center)
别名
HBS1-like protein, ERFS, HBS1L, HBS1, KIAA1038
Human Gene ID
NP_001138630.1;NP_001138679.1;NP_006611.1
Human Swissprot No.
Q9Y450
特异性
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.
背景介绍
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.
组织表达
Detected in heart, brain, placenta, liver, muscle, kidney and pancreas.
细胞定位
[Isoform 2]: Cytoplasm
纯化
Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.