GeneID: 216

Description:
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven alpha like globin genes and pseudogenes: 5'- HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1 -3'. The μ-globin gene (HBM) is transcribed and spliced in erythroid cells, albeit at much lower levels than the alpha-globin genes, and does not form part of a functional haemoglobin molecule. It was originally described as a pseudogene, an annotation that was later reviewed since modern sequencing technology revealed a promoter with erythroid-specific transcription factors and an ORF encoding 141 amino acids. The predicted protein structure showed a high level of homology with the avian α-D globin. Although it does not appear to be translated into a polypeptide, yet the fact that the HBM gene is retained over mammalian evolution is indicative of some function that does not require high level protein expression.

Synonyms: HBK , HBAP2

Comments:
N/A

Number of entries/variants: 34

1. Goh SH, Lee YT, Bhanu NV, Cam MC, Desper R, Martin BM, Moharram R, Gherman RB, Miller JL, A newly discovered human alpha-globin gene., Blood , 106(4), 1466-72, 2005 PubMed
2. Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F, Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels., Nat. Genet. , 47(11), 1264-71, 2015 PubMed