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Results 1 - 10 of 867 for PROTEIN C
  1. Protein C deficiency 
    Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can ...
    https://medlineplus.gov/genetics/condition/protein-c-deficiency - Genetics
  2. Factor V Leiden thrombophilia 
    ... by several proteins, including a protein called activated protein C (APC). APC normally inactivates coagulation factor V, which ... APC resistance, Leiden type Hereditary resistance to activated protein C Genetic Testing Registry: Thrombophilia due to activated protein ...
    https://medlineplus.gov/.../condition/factor-v-leiden-thrombophilia - Genetics
  3. Surfactant dysfunction 
    ... making surfactant protein-B (SP-B) and surfactant protein-C (SP-C), respectively, two of the four proteins ... A. Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  4. Hereditary antithrombin deficiency 
    ... in patients with hereditary deficiencies of protein S, protein C or antithrombin. Thromb Haemost. 2009 Jan;101(1): ...
    https://medlineplus.gov/.../hereditary-antithrombin-deficiency - Genetics
  5. Familial hypertrophic cardiomyopathy 
    ... produced from the MYBPC3 gene, cardiac myosin binding protein C, associates with the thick filament, providing structural support and helping to regulate muscle contractions.The TNNT2 and TNNI3 genes ... two of the three proteins that make up the troponin protein complex found ...
    https://medlineplus.gov/.../familial-hypertrophic-cardiomyopathy - Genetics
  6. Hereditary cerebral amyloid angiopathy 
    ... The CST3 gene provides instructions for making a protein called cystatin C. This protein inhibits the activity of enzymes called cathepsins that cut apart other proteins in order to break them down. Cystatin C is found in biological fluids, such as blood. ...
    https://medlineplus.gov/.../hereditary-cerebral-amyloid-angiopathy - Genetics
  7. Mandibuloacral dysplasia 
    ... lamin A and lamin C.The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in ...
    https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia - Genetics
  8. Familial acute myeloid leukemia with mutated CEBPA 
    ... negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet. 2001 ...
    https://medlineplus.gov/...acute-myeloid-leukemia-with-mutated-cebpa - Genetics
  9. Macrozoospermia 
    ... The AURKC gene provides instructions for making a protein called aurora kinase C. This protein is abundant in male testes, which are the ... are produced and stored. In the testes, this protein regulates the division of sperm cells. Aurora kinase C ensures that the mechanisms for cell division are ...
    https://medlineplus.gov/genetics/condition/macrozoospermia - Genetics
  10. Platyspondylic lethal skeletal dysplasia, Torrance type 
    ... Torrance type occur in a region of the protein called the C-propeptide domain. These mutations interfere with the assembly of type II collagen molecules, reducing the amount of this type of collagen ... COL2A1 protein builds up in cartilage cells (chondrocytes). These changes ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
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