Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol DPH3
Synonyms DELGIP | DELGIP1 | DESR1 | DPH3A | KTI11 | ZCSL2
Gene Description DPH3, diphthamide biosynthesis 3, encodes a zinc finger protein involved in dipthamide synthesis, which involves modification to the elongater complex, specifically converting a histidine residue to dipthamide in the eukaryotic elongation factor 2 protein (PMID: 16648478, PMID: 28555368). DPH3 mutations in the promoter region have been identified in various skin cancers, including melanoma, basal cell carcinoma, and squamous cell carcinoma (PMID: 26416425).
Additional content available in CKB BOOST