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H2AX Gene
Definition and Synonyms

Definition: Human H2AX Gene (H2A Family) at 11q23.2-q23.3 produces an alternatively processed 0.6-kb stem loop transcript or a 1.6-kb read through transcript, that generate 142-aa basal Histone H2AX having a unique conserved C-terminal sequence, QASQEY. Expressed in G1 and S-phase, H2AX synthesis is not replication linked. An upstream CCAAT box shares binding factors with Histone H2AZ. Downstream H2AX overlaps HMBS. NBS1/phospho-H2AX (gamma-H2AX) associate with irradiation-induced and V(D)J-induced DNA double-strand breaks. In pre-thymocytes, NBS1/gamma-H2AX form at RAG1-mediated TCRA V(D)J cleavage sites. NBS1/gamma-H2AX facilitate AID-dependent DNA break repair in G1 cells undergoing Ig heavy-chain constant region class switch recombination. (from LocusLink, Swiss-Prot, OMIM, and NCI)

Synonyms: H2AFX Gene, H2A.X, H2A/X, H2AFX, H2AX

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