HBZ

hemoglobin subunit zeta

Summary

Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]

Known Variants7 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54406154016:201,599A/G
rs75690335016:202,967C/Tuncertain significance
rs285891916:203,135T/G
rs250540633716:203,994G/Auncertain significance
rs130399695916:204,028G/Auncertain significance
rs53130232116:204,126A/Gregulatory region variant
rs78034133216:204,279C/Tlikely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.