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Results 1 - 10 of 124 for Reduced protein S activity
  1. Multiple mitochondrial dysfunctions syndrome 
    ... protein, which impairs Fe-S cluster formation. Consequently, proteins affected by the presence of Fe-S clusters, including those involved in energy production and glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate dehydrogenase, ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. Factor XIII deficiency 
    ... 5 percent of normal. A loss of this protein's activity weakens blood clots, preventing the clots from stopping blood loss effectively.The acquired form of factor XIII deficiency results when the production of factor XIII is reduced or when the body uses factor XIII faster ...
    https://medlineplus.gov/genetics/condition/factor-xiii-deficiency - Genetics
  3. Cutis laxa 
    ... gene. This gene provides instructions for making a protein that is important ... the activity of numerous copper-containing enzymes that are necessary ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  4. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... of FBXL4 protein function. A lack of this protein's activity leads to ... Reduced mitochondrial function eventually leads to cell dysfunction, most ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  5. Congenital contractural arachnodactyly 
    ... flexibility to connective tissue that supports the body's joints and organs. ... is reduced, which probably weakens the structure of connective tissue ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  6. SYNGAP1-related intellectual disability 
    ... from one copy of the gene, reducing the protein's activity in cells. Studies show that a reduction of ...
    https://medlineplus.gov/.../syngap1-related-intellectual-disability - Genetics
  7. Hennekam syndrome 
    ... result in a FAT4 protein with decreased function. Reduced FAT4 protein activity seems to impair normal development of the lymphatic ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  8. PLCG2-associated antibody deficiency and immune dysregulation 
    ... contrast, at normal body temperature, the PLCγ2 enzyme's activity is reduced. The resulting impairment of immune cell function prevents ...
    https://medlineplus.gov/...ibody-deficiency-and-immune-dysregulation - Genetics
  9. Protein C deficiency 
    ... that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the ...
    https://medlineplus.gov/genetics/condition/protein-c-deficiency - Genetics
  10. Hartnup disease 
    ... mutations result in the production of a B0AT1 protein with reduced activity. As a result, specific amino acids cannot be ...
    https://medlineplus.gov/genetics/condition/hartnup-disease - Genetics
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