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Results 21 - 30 of 148 for Down syndrome
  1. VHL gene 
    ... of the protein. As in von Hippel-Lindau syndrome, when the VHL protein is altered, the HIF-2α protein is not broken down, and instead builds up in cells. Excess HIF ...
    https://medlineplus.gov/genetics/gene/vhl - Genetics
  2. AHDC1 gene 
    ... unclear. The shortened proteins may be quickly broken down or be unable to function. Or, the abnormal proteins may interfere with the function of AHDC1 proteins produced from the normal copy of the gene. Some people with Xia-Gibbs syndrome have a mutation that removes (deletes) the AHDC1 ...
    https://medlineplus.gov/genetics/gene/ahdc1 - Genetics
  3. SPART gene 
    ... do not have enough normal spartin cannot break down lipid droplets properly, which allows fat ... KIAA0610 SPARTIN SPG20 ...
    https://medlineplus.gov/genetics/gene/spart - Genetics
  4. CHD7 gene 
    ... of an abnormal CHD7 protein that is broken down prematurely. Shortage of this ... More About This Health Condition More than 50 ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  5. MID1 gene 
    ... so they can be reused instead of broken down is essential because they are necessary for normal cellular functioning. About 90 mutations in the MID1 gene have been found to cause Opitz G/BBB syndrome. This condition causes several abnormalities along the midline ...
    https://medlineplus.gov/genetics/gene/mid1 - Genetics
  6. CTNND1 gene 
    ... result in an unstable protein that quickly breaks down. A shortage of p120-catenin protein ... cadherin-associated Src ...
    https://medlineplus.gov/genetics/gene/ctnnd1 - Genetics
  7. TRIP13 gene 
    ... size (microcephaly).TRIP13 gene mutations involved in MVA syndrome lead to production of an abnormally short protein that is quickly broken down. As a result, cells lack TRIP13 protein. A ...
    https://medlineplus.gov/genetics/gene/trip13 - Genetics
  8. AMH gene 
    ... cells. As a result, the Müllerian duct breaks down (regresses) in males. In females, who do not produce the AMH protein during fetal development, the Müllerian duct becomes the uterus and fallopian tubes. Persistent Müllerian duct syndrome type 1, a disorder of sexual development that ...
    https://medlineplus.gov/genetics/gene/amh - Genetics
  9. AMHR2 gene 
    ... cells. As a result, the Müllerian duct breaks down (regresses) in males. In females, who do not produce the AMH protein during fetal development, the Müllerian duct becomes the uterus and fallopian tubes. Persistent Müllerian duct syndrome type 2, a disorder of sexual development that ...
    https://medlineplus.gov/genetics/gene/amhr2 - Genetics
  10. MPV17 gene 
    ... an unstable MPV17 protein that is quickly broken down. When the condition occurs ... syndrome, including the R50Q mutation, impair protein function and ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
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