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Results 1 - 10 of 286 for Reduced protein S activity
  1. PRKN gene 
    ... inherited. As a result of these alterations, parkin activity is reduced or absent in these cells. Because parkin is thought to act as a tumor suppressor, a shortage of this protein's function could allow cells to grow and divide ...
    https://medlineplus.gov/genetics/gene/prkn - Genetics
  2. ESCO2 gene 
    ... form of the disorder would have mutations that reduced the activity of the ESCO2 protein, while those with the severe form would have mutations that completely eliminated the protein's function. However, all known mutations in the ESCO2 ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. NFU1 gene 
    ... 1 protein 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/genetics/gene/nfu1 - Genetics
  4. BOLA3 gene 
    ... BOLA3 protein 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/genetics/gene/bola3 - Genetics
  5. CYB5R3 gene 
    ... gene polymorphism that changes the way the gene's instructions are used to make the protein (written as I1M+6C>T) have reduced enzyme activity. As a result, the chemicals from cigarette smoke ...
    https://medlineplus.gov/genetics/gene/cyb5r3 - Genetics
  6. TTN gene 
    ... of these variants alter the way the gene's instructions are used to produce titin, resulting in production of an abnormal protein with reduced or altered activity in muscle cells. Other variants prevent the production ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  7. 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
  8. CYP17A1 gene 
    ... These mutations alter a region of the CYP17A1 protein that plays a role in the enzyme's 17,20-lyase function but not its 17α-hydroxylase function. As a result, 17,20-lyase activity is severely reduced but 17α-hydroxylase activity is normal. As in ...
    https://medlineplus.gov/genetics/gene/cyp17a1 - Genetics
  9. 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
  10. CYP7B1 gene 
    ... in adolescence. Most CYP7B1 gene mutations change single protein building ... enzyme.Reduced oxysterol 7-alpha-hydroxylase enzyme activity does not ...
    https://medlineplus.gov/genetics/gene/cyp7b1 - Genetics
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