Human Rtel1 is a superfamily II DNA helicase [10] and is homologous to other human DNA helicases XPD (Xeroderma pigmentosum factor D) [11], FancJ (Fanconi's anaemia complementation group J)/BACH1 (for BRCA1-associated C-terminal helicase) [12, 13], and ChlR1 (a protein required for normal mitotic progression) [14]. The gene discussed is BRIP1; the disease is anemia (phenotype).