Biology:HBS1 like translational GTPase
 Generic protein structure example |
HBS1 like translational GTPase is a protein that in humans is encoded by the HBS1L gene. [1]
Function
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[citation needed], and this region influences 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.
References
- ↑ "Entrez Gene: HBS1 like translational GTPase". https://www.ncbi.nlm.nih.gov/gene/10767. Retrieved 2017-09-22.
Further reading
- "Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults". Proc. Natl. Acad. Sci. U.S.A. 104 (27): 11346–51. 2007. doi:10.1073/pnas.0611393104. PMID 17592125.
- "The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans". Blood 110 (10): 3624–6. 2007. doi:10.1182/blood-2007-05-093419. PMID 17712044.
- "DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease". Proc. Natl. Acad. Sci. U.S.A. 105 (33): 11869–74. 2008. doi:10.1073/pnas.0804799105. PMID 18667698.
- "Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E". Int. J. Hematol. 88 (4): 357–61. 2008. doi:10.1007/s12185-008-0167-3. PMID 18839276.
- "Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E". Int. J. Hematol. 88 (4): 357–61. 2008. doi:10.1007/s12185-008-0167-3. PMID 18839276.
- "Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients". PLOS ONE 4 (1): e4218. 2009. doi:10.1371/journal.pone.0004218. PMID 19148297.
- "Amelioration of Sardinian beta0 thalassemia by genetic modifiers". Blood 114 (18): 3935–7. 2009. doi:10.1182/blood-2009-04-217901. PMID 19696200.
- "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium". Nat. Genet. 41 (11): 1191–8. 2009. doi:10.1038/ng.466. PMID 19862010.
- "A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E". Hum. Genet. 127 (3): 303–14. 2010. doi:10.1007/s00439-009-0770-2. PMID 20183929.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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