SpliceAtlasDB
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🧬 基因注释:HBB

📝 官方信息

官方名称:hemoglobin subunit beta

功能摘要:The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
🏥 关联疾病

该基因暂无关联疾病记录

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