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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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