DHPS Chromosome 19
Deoxyhypusine synthase
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What This Gene Does
This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]
Associated Conditions (9)
Neurodevelopmental disorder with seizures and speech and walking impairment
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
Familial cancer of breast
Thyroid cancer
nonmedullary
1
DHPS-related disorder
Key Variants
RS142633494
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with seizures and speech and walking impairment, Clear cell carcinoma of kidney, Colon adenocarcinoma
Health Risk
RS541400419
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with seizures and speech and walking impairment, Neurodevelopmental disorder with seizures and speech and walking impairment
Health Risk
RS1568317152
Likely pathogenic
Neurodevelopmental disorder with seizures and speech and walking impairment, DHPS-related disorder, Neurodevelopmental disorder with seizures and speech and walking impairment
Health Risk
RS2512546825
Likely pathogenic
Health Risk
RS765706154
Likely pathogenic
Health Risk
RS758100382
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with seizures and speech and walking impairment, DHPS-related disorder, Neurodevelopmental disorder with seizures and speech and walking impairment
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142633494 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with seizures and speech and walking impairment, Clear cell carcinoma of kidney, Colon adenocarcinoma |
| RS541400419 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with seizures and speech and walking impairment, Neurodevelopmental disorder with seizures and speech and walking impairment |
| RS1568317152 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with seizures and speech and walking impairment, DHPS-related disorder, Neurodevelopmental disorder with seizures and speech and walking impairment |
| RS2512546825 | Health Risk | Likely pathogenic | — |
| RS765706154 | Health Risk | Likely pathogenic | — |
| RS758100382 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with seizures and speech and walking impairment, DHPS-related disorder, Neurodevelopmental disorder with seizures and speech and walking impairment |