HBS1L Products

Description

HBS1L 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]

Bioinformatics

Entrez	10767 Human
Uniprot	NM_006620 Human NP_006611.1 Human Q9Y450 Human
Product By Gene ID	10767
Alternate Names	DKFZp434g247 ERF3-similar protein ERFSDKFZp686L13262 HBS1 (S. cerevisiae)-like HBS1KIAA1038EF-1a HBS1-like (S. cerevisiae) HBS1-like protein Hsp70 subfamily B suppressor 1-like protein HSPC276

Research Areas for HBS1L

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Signal Transduction