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Genes
DPH1
Gene - DPH1
full name
diphthamide biosynthesis 1
synonyms
DPH2L, DPH2L1, OVCA1, DPH1, ENSG00000108963
HGNC
HGNC:3003
Entrez Gene
Gene:1801
ENSEMBL
ENSG00000108963
location
chr: 17
start: 1933431
stop: 1947183
strand: +
OMIM
OMIM:603527
: DPH1
OMIM:616901
: Developmental delay with short stature, dysmorphic facial features, and sparse hair
transcripts
NM_001383.3
pathways
Gamma carboxylation, hypusine formation and arylsulfatase activation
[NCBI:1268702]
[REACTOME:R-HSA-163841]
Metabolism of proteins
[NCBI:1268677]
[REACTOME:R-HSA-392499]
Post-translational protein modification
[NCBI:1268701]
[REACTOME:R-HSA-597592]
Synthesis of diphthamide-EEF2
[NCBI:1268708]
[REACTOME:R-HSA-5358493]
[PUBMED:721806]
[PUBMED:23971743]
[PUBMED:25352115]
[PUBMED:20040]
[PUBMED:164179]
[PUBMED:23468660]
[PUBMED:15485916]
[PUBMED:24739148]