GeneID: 18

Description:
While five out of the six genes in the beta-globin cluster encode functional proteins, one of the genes called HBBP1 does not, due to the presence of several stop codons that were once thought to be mutations. This gene was classified as a pseudogene (a broken defunct remnant) because of its assumed non-functionality. Analysis of the HBBP1 pseudogene region for gene-function data, related to the ENCODE project, revealed that it is actively associated with transcriptional (gene control) regulation in conjunction with the LCR region that controls the whole beta-globin gene cluster. Moreover, a single base mutation in the HBBP1 pseudogene is associated with beta-thalassaemia. Polymorphisms in this pseudogene also associated with HbF levels in sickle cell patients.

Synonyms: HBH1 , HBHP

Comments:
N/A

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2. ENCODE Project Consortium, Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M, An integrated encyclopedia of DNA elements in the human genome., Nature , 489(7414), 57-74, 2012 PubMed
3. Giannopoulou E, Bartsakoulia M, Tafrali C, Kourakli A, Poulas K, Stavrou EF, Papachatzopoulou A, Georgitsi M, Patrinos GP, A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype., Hemoglobin , 36(5), 433-45, 2012 PubMed