GeneID: 134
Names
Common Name: | HBS1L-LOC105378010 | Type: | Intergenic Region |
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Chromosome: | 6 (NC_000006.12) | Locus: | N/A |
HUGO Symbol: | HBS1L-LOC105378010 | Full Name: | N/A |
Exons: | N/A | Introns: | N/A |
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. LOC105378010 is an uncharacterized locus. Polymorphisms in this intergenic region (HBS1L-LOC105378010) associated with the HbF levels in the general population of Sardinia.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 0
External Links
No available links
IthaScore
Publications / Origin
- Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008
A/A | Date | Curator(s) | Comments |
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1 | 2016-04-27 16:45:14 | The IthaGenes Curation Team | Created |
2 | 2018-04-28 14:42:49 | The IthaGenes Curation Team | Reviewed. Gene description corrected. |