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Protein S deficiency disease
- ... the PROS1 gene have been found to cause protein S deficiency. People with this condition have an increased risk ... impair the function of protein S. Individuals with protein S deficiency may not have enough functional protein S to ...
- ... variant metachromatic leukodystrophy) prosaptides SAP1 SAP2 (sphingolipid activator protein-2) SAP_HUMAN SGP-1 (sulfoglycoprotein-1) Tests of PSAP PubMed PROSAPOSIN; PSAP GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, ...
- ... gene cause a more severe disorder called Tangier disease (described below).Most ABCA1 gene variants that cause familial HDL deficiency change single protein building blocks (amino acids) in the ABCA1 protein. ...
- ... deficiency. This condition is characterized by a shortage (deficiency) of the alpha-1 antitrypsin protein, which increases a person's risk of developing lung disease, liver disease, and other abnormalities.Many SERPINA1 gene ...
- ... PubMed Schuster V, Kreth HW. X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein. Immunol Rev. 2000 Dec;178:21-8. doi: ...
- ... Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. Some of the gene mutations involved in riboflavin transporter deficiency neuronopathy prevent production of the RFVT2 protein. Others lead to production of an abnormal protein ...
- ... to form HDL. Other versions of the altered protein are less able to stimulate ... About This Health Condition Mutations in the ...
- ... in the breakdown (metabolism) of carbohydrates, fats, and proteins. ... syndrome and Fazio-Londe disease. The gene mutations involved in this condition lead ...
- ... Most KRT5 gene mutations that cause Dowling-Degos disease lead to the production of a keratin 5 protein that is abnormally small and nonfunctional or prevent any protein from being produced from the gene. A shortage (deficiency) of functional keratin 5 impairs the formation of ...
- ... which consist of sugar molecules attached to certain proteins and fats. Specifically, ... Schindler disease. The three types of alpha-N-acetylgalactosaminidase deficiency ...
