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Results 1 - 7 of 7 for carboxylate
  1. Hyperprolinemia 
    ... levels of a related compound called pyrroline-5-carboxylate. This form of the disorder is more likely ... the reaction that converts proline to pyrroline-5-carboxylate. Hyperprolinemia type II is caused by variants in ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  2. ALDH4A1 gene 
    ... provides instructions for producing the enzyme pyrroline-5-carboxylate dehydrogenase, which is found in tissues throughout the ... in energy-producing structures called mitochondria.Pyrroline-5-carboxylate dehydrogenase starts the second step in the process ...
    https://medlineplus.gov/genetics/gene/aldh4a1 - Genetics
  3. ALDH18A1 gene 
    ... these conditions is unknown. GSAS PYCS pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) Tests of ALDH18A1 ... missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  4. PYCR1 gene 
    ... step in this process by turning pyrroline-5-carboxylate into proline. The conversion between proline and glutamate ... Condition P5C Tests of PYCR1 PubMed PYRROLINE-5-CARBOXYLATE REDUCTASE 1; PYCR1 NCBI Gene ClinVar Dimopoulou A, ...
    https://medlineplus.gov/genetics/gene/pycr1 - Genetics
  5. Gyrate atrophy of the choroid and retina 
    ... convert ornithine into another molecule called pyrroline-5-carboxylate (P5C). P5C can be converted into the amino ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  6. PRODH gene 
    ... the reaction that converts proline to pyrroline-5-carboxylate. A subsequent step converts this intermediate product to ...
    https://medlineplus.gov/genetics/gene/prodh - Genetics
  7. OAT gene 
    ... convert ornithine into another molecule called pyrroline-5-carboxylate (P5C). P5C can be converted into the amino ...
    https://medlineplus.gov/genetics/gene/oat - Genetics