DPH2

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Description

The DPH2 (diphthamide biosynthesis 2) is a protein-coding gene located on chromosome 1.

DPH2 is essential for the initial stage of diphthamide biosynthesis, a post-translational modification of histidine found in elongation factor 2 (EF2). DPH2, in conjunction with DPH1, transfers a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue. This process is aided by a reduction system consisting of DPH3 and a NADH-dependent reductase. DPH2 also facilitates the reduction of the catalytic iron-sulfur cluster located in the DPH1 subunit.

DPH2 is also known as DEDSSH2, DPH2L2.

Associated Diseases

• Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
• Developmental delay with short stature, dysmorphic facial features, and sparse hair 2