🧬 基因注释:HBA1
官方名称:hemoglobin subunit alpha 1
功能摘要:The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008].
- HNRNPK 综合评分: 0.362 · 证据 2 条
- PCBP1 综合评分: 0.262 · 证据 2 条
- RBM22 综合评分: 0.250 · 证据 2 条
- AQR 综合评分: 0.212 · 证据 1 条
- PABPC4 综合评分: 0.212 · 证据 2 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- ACIN1 综合评分: 0.150 · 证据 2 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- HNRNPUL1 综合评分: 0.100 · 证据 1 条
- LUC7L2 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录