DPH5 Chromosome 1

Diphthamide biosynthesis 5
3 variants 3 Health Risk

Upload your DNA to see your personal genotypes for variants in DPH5.

What This Gene Does
This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Diphthamide biosynthesis genes|Tetrapyrrole methylase domain containing|Histidine methyltransferases"
Locus Type
gene with protein product
Location
1p21.2
Ensembl
ENSG00000117543
Associated Conditions (3)
Neurodevelopmental disorder with short stature
prominent forehead
and feeding difficulties
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS368593058 Health Risk Pathogenic Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
RS376566442 Health Risk Pathogenic Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
RS746680777 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Sign Up to Analyze Your DNA Log In