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Results 1 - 10 of 22 for Enzyme activity finding
  1. SDHB gene 
    ... a result, there is little or no SDH enzyme activity. Without the SDH enzyme, succinate is not converted ... a result, there is little or no SDH enzyme activity. As in GIST (described above), the reduction of ...
    https://medlineplus.gov/genetics/gene/sdhb - Genetics
  2. SDHD gene 
    ... a result, there is little or no SDH enzyme activity. Without the SDH enzyme, succinate is not converted ... a result, there is little or no SDH enzyme activity. As in GIST (described above), the reduction of ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics
  3. SDHC gene 
    ... a result, there is little or no SDH enzyme activity. Without the SDH enzyme, succinate is not converted ... a result, there is little or no SDH enzyme activity. As in GIST (described above), the reduction of ...
    https://medlineplus.gov/genetics/gene/sdhc - Genetics
  4. SDHAF2 gene 
    ... function. The FAD cofactor is required for SDH enzyme activity.The SDH enzyme plays a critical role in mitochondria, which are ...
    https://medlineplus.gov/genetics/gene/sdhaf2 - Genetics
  5. BTD gene 
    ... of the enzyme and reduce or eliminate the enzyme's activity.Most BTD gene mutations cause profound biotinidase deficiency. ... 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. ... the activity of biotin-dependent carboxylases, leading to a buildup ...
    https://medlineplus.gov/genetics/gene/btd - Genetics
  6. GLA gene 
    ... that reduce but do not completely eliminate the enzyme's activity usually cause milder, late-onset forms of the disorder. More About This Health Condition ... doi: 10.1002/humu.9327. Citation on PubMed
    https://medlineplus.gov/genetics/gene/gla - Genetics
  7. PRKAG2 gene 
    ... unclear, however, whether the genetic changes overactivate the enzyme or reduce its activity.Studies indicate that changes in AMP-activated protein ... CE, Seidman JG. Increased alpha2 subunit-associated AMPK activity and PRKAG2 ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  8. CPT2 gene 
    ... reduced levels of activity. Variants that severely reduce enzyme activity typically cause the more severe forms of CPT ... infantile hepatocardiomuscular form), while those that partially reduce enzyme activity usually cause the less severe myopathic form of ...
    https://medlineplus.gov/genetics/gene/cpt2 - Genetics
  9. GAA gene 
    ... gene. Mutations in this gene significantly reduce the activity of acid alpha-glucosidase, preventing the enzyme from breaking down glycogen effectively. As a result, ...
    https://medlineplus.gov/genetics/gene/gaa - Genetics
  10. SRD5A3 gene 
    ... The lack of steroid 5 alpha-reductase 3 enzyme activity impairs the formation of dolichol, which also reduces ... of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5alpha-Reductase Type 3 Congenital Disorder ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
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