DPH5 Chromosome 1
Diphthamide biosynthesis 5
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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
RS368593058
Pathogenic
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Health Risk
RS376566442
Pathogenic
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Health Risk
RS746680777
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Health Risk
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 |