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Abnormal play
- ... combination of the altered RANBP2 protein and the abnormal immune response play a role in individuals' susceptibility to recurrent episodes ...
- ... the three-dimensional shape of the protein. The abnormal protein cannot play its role in the formation of the lymphatic ...
- ... of sensory neurons; however, the role that the abnormal WNK1/HSN2 protein plays in that loss is unclear. The loss of ...
- ... is unknown if WNK1 is affected by the abnormal E3 ubiquitin ligase complex or whether WNK1 plays a role in development of PHA2 caused by ...
- ... in the testes, leading to the development of abnormal genitalia. It is thought that the disruption of ARX protein function in the pancreas plays a role in digestive issues, including chronic diarrhea, ...
- ... 17,20-lyase deficiency, which is characterized by abnormal sexual development without hypertension or hypokalemia. These mutations alter a region of the CYP17A1 protein that plays a role in the enzyme's 17,20- ...
- ... Pyrophosphate is important in preventing the accumulation of abnormal deposits of calcium (calcification) and other minerals (mineralization) in the body.The ENPP1 protein also plays a role in controlling cell signaling in response ...
- ... is unknown how these variations might contribute to abnormal inflammation in people with Yao syndrome. Researchers suspect that environmental factors such as infections may also play a role in triggering the disease in people ...
- ... at the edges of the retina. The resulting abnormal blood supply to this tissue can lead to retinal damage and vision loss. Because the LRP5 protein plays a role in bone formation, LRP5 gene variants ...
- ... missing the CLD. It is unknown if the abnormal protein is produced or what effects it might have. It is unclear what role this gene variant plays in the development of the specific features of ...