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Results 1 - 10 of 95 for Plasma membrane
  1. Myoclonus-dystonia 
    ... dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet. ...
    https://medlineplus.gov/genetics/condition/myoclonus-dystonia - Genetics
  2. Benign recurrent intrahepatic cholestasis 
    ... Xu S, Mennone A, Boyer JL. Levels of plasma membrane expression in progressive and benign mutations of the ...
    https://medlineplus.gov/...benign-recurrent-intrahepatic-cholestasis - Genetics
  3. Thiamine-responsive megaloblastic anemia syndrome 
    ... Assaraf YG, Cohen N, Aronheim A. Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
  4. SLC4A1-associated distal renal tubular acidosis 
    ... protein, which transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine ( ... ions). The AE1 protein is found in the cell membrane of kidney cells and red blood cells. In ...
    https://medlineplus.gov/...-associated-distal-renal-tubular-acidosis - Genetics
  5. Familial glucocorticoid deficiency 
    ... from the interior of the cell to the cell membrane. When the ACTH receptor is embedded within the cell membrane, it is turned on (activated) by the MRAP ...
    https://medlineplus.gov/.../familial-glucocorticoid-deficiency - Genetics
  6. Mabry syndrome 
    ... binds them to the outer surface of the cell membrane, ensuring that they are available when needed. Alkaline ... of a protein that is bound to the cell membrane by a GPI anchor.The proteins produced from ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  7. Spinocerebellar ataxia type 6 
    ... transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for ... the alpha-1 subunit is located within the cell membrane; the abnormal subunit is found in the cell ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-6 - Genetics
  8. Infantile neuroaxonal dystrophy 
    ... many body processes, including helping to keep the cell membrane intact and functioning properly. Specifically, the A2 phospholipase ... compound called phosphatidylcholine, which is abundant in the cell membrane.Mutations in the PLA2G6 gene impair the function ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  9. Pelizaeus-Merzbacher disease 
    ... system). These two proteins are found within the cell membrane of nerve cells, where they make up the ... within cell structures and cannot travel to the cell membrane. As a result, proteolipid protein 1 and DM20 ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  10. Gordon Holmes syndrome 
    ... are critical to the stability and function of cell membranes. NTE is found most abundantly in the nervous ... a process that requires particular changes in the cell membrane. The pituitary gland is located at the base ...
    https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome - Genetics
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