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Results 1 - 10 of 25 for ATP
  1. Mitochondrial complex V deficiency 
    ... associated with changes in mtDNA to their children. ATP synthase deficiency Genetic Testing Registry: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Mitochondrial complex V ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  2. Cantú syndrome 
    Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  3. Leigh syndrome 
    ... protein complexes drive the production of adenosine triphosphate (ATP), the cell's main energy source, through a ... the next step of the process to generate ATP. Variants in the SURF1 gene typically lead to ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  4. Permanent neonatal diabetes mellitus 
    ... provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from ...
    https://medlineplus.gov/.../permanent-neonatal-diabetes-mellitus - Genetics
  5. Neuropathy, ataxia, and retinitis pigmentosa 
    ... oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The MT- ... forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  6. Pseudoxanthoma elasticum 
    ... the release of a molecule called adenosine triphosphate (ATP) from cells through an unknown mechanism. ATP can be broken down into other molecules, including ...
    https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum - Genetics
  7. Generalized arterial calcification of infancy 
    ... helps break down a molecule called adenosine triphosphate (ATP), specifically when it is found outside the cell (extracellular). Extracellular ATP is quickly broken down into other molecules called ...
    https://medlineplus.gov/...ralized-arterial-calcification-of-infancy - Genetics
  8. Actin-accumulation myopathy 
    ... way the skeletal α-actin protein binds to ATP. ATP is a molecule that supplies energy for cells' ... thin filaments from individual actin molecules. Dysfunctional actin-ATP binding may result in abnormal thin filament formation ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  9. Gorlin-Chaudhry-Moss syndrome 
    ... producing centers in cells. Among these molecules is ATP, which is the cell's main energy source. Transportation of ATP within the mitochondria is essential for normal energy ...
    https://medlineplus.gov/.../condition/gorlin-chaudhry-moss-syndrome - Genetics
  10. Palmoplantar keratoderma with deafness 
    ... sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNASer( ... may impair the ability of mitochondria to make ATP. Researchers have not determined why the effects of ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
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