GeneID: 216


Common Name: HBM Type: Gene
Chromosome: 16 (NC_000016.10) Locus: NG_000006.1 (α-locus)
HUGO Symbol: HBM Full Name: hemoglobin subunit mu
Exons: 3 Introns: 2

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


Number of entries/variants: 32


Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  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
Created on 2017-02-21 10:10:55, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.