DHPS
DHPS
| Contact: | DHPS Foundation |
| Tel: | (212) 851-5313 |
| Email: | wkc15@cumc.columbia.edu |
| Website | Click here |
| More info: |
Genetics Team (Columbia University Medical Center) Wendy Chung, MD PhD Kennedy Family Professor of Pediatrics and Medicine 1150 St. Nicholas Avenue Room 620 New York, NY 10032 |
| About: |
Deoxyhypusine synthase is involved in the synthesis of an unusual amino acid, hypusine, which is found in only a single protein, eukaryotypic translation initiation factor-5A (EIF5A). EIF5A promotes translation elongation, or production of many proteins. There are no known humans with mutations in EIF5A. DHPS is a genetic condition that occurs when a change or mutation in DNA is inherited from both parents in an autosomal recessive manner, which means that both copies of the DHPS gene in each cell have a mutation. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but do not show signs and symptoms of the condition. |
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