Gene: DPH1

Alternate names for this Gene: DEDSSH|DPH2L|DPH2L1|OVCA1

Gene Summary: The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: diphthamide biosynthesis 1

Type of Gene: protein-coding

Gene: OVCA2

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: OVCA2 serine hydrolase domain containing

Type of Gene: protein-coding

rs2236375 in DPH1;OVCA2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.