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Results 1 - 10 of 27 for compartment syndrome OR edema OR edema
  1. SLC9A6 gene 
    ... is important for the recycling function of these compartments. The NHE6 protein may have ... to Christianson syndrome. This condition is characterized by neurological problems, including ...
    https://medlineplus.gov/genetics/gene/slc9a6 - Genetics
  2. TBC1D20 gene 
    ... important for maintaining the structure of a cell compartment called the Golgi apparatus, in ... been found to cause Warburg micro syndrome, which is the most severe of the disorders ...
    https://medlineplus.gov/genetics/gene/tbc1d20 - Genetics
  3. SCARB2 gene 
    The SCARB2 gene provides instructions for making a protein called lysosomal integral membrane protein-2 (LIMP-2). As its name suggests, this protein is primarily ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  4. EMG1 gene 
    The EMG1 gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell' ...
    https://medlineplus.gov/genetics/gene/emg1 - Genetics
  5. HPS1 gene 
    ... during their formation. LROs are very similar to compartments within the cell called lysosomes, which digest and ... gene have been found to cause Hermansky-Pudlak syndrome type 1. Individuals with this form of the ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  6. ATP6V0A2 gene 
    ... ATPases help regulate the pH of particular cell compartments. These compartments include endosomes and lysosomes, which digest and recycle ... also cause a related condition called wrinkly skin syndrome, which typically has milder features. Variants in the ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  7. HPS3 gene 
    ... during their formation. LROs are very similar to compartments within the cell called lysosomes, which digest and ... gene have been found to cause Hermansky-Pudlak syndrome type 3, which is a mild form of ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  8. OCRL gene 
    ... OCRL enzyme is also found on endosomes, specialized compartments that are formed at the cell surface to ... 2 to be a mild variant of Lowe syndrome, which is discussed below.The OCRL gene mutations ...
    https://medlineplus.gov/genetics/gene/ocrl - Genetics
  9. KIF7 gene 
    ... B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog ... by organizing the cilium tip compartment. Nat Cell Biol. 2014 Jul;16(7):663- ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  10. TMCO1 gene 
    ... of these ions in cells and in cell compartments is important for the development and function of ... endoplasmic reticulum. The imbalance of calcium in this compartment disrupts development of a variety of tissues and ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
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