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Reduced protein C activity
- ... II result in the production of an altered protein C with reduced activity. Individuals with this form of the condition have normal levels of protein C, but the protein is not able to interact ...
- ... isolated hyperparathyroidism reduce the activity of the parafibromin protein. Reduced parafibromin activity can increase cell proliferation, leading to the formation ...
- ... cutis laxa result in production of a P5CS protein with reduced activity. Some studies suggest that in ADCL3A, the abnormal protein from the altered copy of the gene interferes ...
- ... to make trichohyalin, resulting in an abnormally short protein with severely reduced activity. A shortage (deficiency) of functional protein reduces the ...
- ... produce titin, resulting in production of an abnormal protein with reduced or altered activity in muscle cells. Other variants prevent the production ...
- ... form of the disorder would have mutations that reduced the activity of the ESCO2 protein, while those with the severe form would have ...
- ... reduce the expression of the SMARCA2 gene. The reduced gene activity likely decreases or alters protein production, which would lead to changes in SWI/ ...
- ... with other proteins. These changes prevent the ATRX protein from effectively regulating gene expression. Reduced activity of the HBA1 and HBA2 genes causes a ...
- ... amino acid asparagine at position 173 in the protein (written as Asp173Asn or D173N).The reduced B0AT1 activity leads to large amounts of neutral amino acids ...
- ... only one copy of the NCF1 gene have reduced levels of the neutrophil cytosolic factor 1 protein, which decreases the activity of NOX and results in the production of ...
