DPH6

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Description

The DPH6 (diphthamine biosynthesis 6) is a protein-coding gene located on chromosome 15.

DPH6 is an amidase that catalyzes the final step in the biosynthesis of diphthamide. This process involves the use of ammonium and ATP to convert an L-histidine residue in the translation elongation factor EEF2 into diphthamide.

DPH6 is also known as ATPBD4.

Associated Diseases

• common variable immunodeficiency
• immunodeficiency 79
• severe combined immunodeficiency due to IKK2 deficiency
• immunodeficiency 72 with autoinflammation
• isolated agammaglobulinemia
• combined immunodeficiency due to ZAP70 deficiency
• 22q11.2 deletion syndrome
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• T-cell immunodeficiency, congenital alopecia, and nail dystrophy