Aliases for HBS1L Gene
External Ids for HBS1L Gene
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, May 2009]
GeneCards Summary for HBS1L Gene
HBS1L (HBS1-Like Translational GTPase) is a Protein Coding gene. Diseases associated with HBS1L include sickle cell disease and thalassemia. Among its related pathways are Legionellosis and mRNA surveillance pathway. GO annotations related to this gene include GTP binding and translation elongation factor activity. An important paralog of this gene is GSPT1.