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Results 11 - 20 of 148 for Down syndrome
  1. STIM1 gene 
    ... flow in platelets causes the cells to break down earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  2. DCAF17 gene 
    ... a protein that is abnormally short and breaks down quickly or whose usual function is impaired. Loss of DCAF17 protein function likely accounts for the features of Woodhouse-Sakati syndrome, although it is unclear how a shortage of ...
    https://medlineplus.gov/genetics/gene/dcaf17 - Genetics
  3. RNF216 gene 
    ... protein to tag unneeded proteins to be broken down. Impaired breakdown of Arc disrupts normal synaptic connections and plasticity, which likely contributes to dementia in people with Gordon Holmes syndrome. It is unclear how a lack of RNF216 ...
    https://medlineplus.gov/genetics/gene/rnf216 - Genetics
  4. ABHD5 gene 
    ... lipid droplets. Once activated, the ATGL enzyme breaks down triglycerides in these structures to provide energy for the body. Several variants (also called mutations) in the ABHD5 gene have been found to cause Chanarin-Dorfman syndrome, a condition in which triglycerides build up in ...
    https://medlineplus.gov/genetics/gene/abhd5 - Genetics
  5. IFIH1 gene 
    ... gene 5 melanoma differentiation-associated protein 5 murabutide down-regulated protein RIG-I-like receptor 2 RLR-2 RNA helicase-DEAD box protein 116 Tests of IFIH1 PubMed SINGLETON-MERTEN SYNDROME 1; SGMRT1 INTERFERON-INDUCED HELICASE C DOMAIN-CONTAINING ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  6. CDH1 gene 
    ... abnormal E-cadherin protein that is quickly broken down. A shortage of E-cadherin protein impairs the interaction between E-cadherin and p120-catenin and affects craniofacial development, leading to the features of BCD syndrome. Despite the association of CDH1 gene mutations with ...
    https://medlineplus.gov/genetics/gene/cdh1 - Genetics
  7. ALDH3A2 gene 
    ... enzyme. The gene mutations that cause Sjögren-Larsson syndrome lead to the production of a FALDH enzyme that is unable to break down fatty aldehyde molecules. As a result, fats that ...
    https://medlineplus.gov/genetics/gene/aldh3a2 - Genetics
  8. MMP14 gene 
    ... enough of the enzyme is available to break down components of the extracellular matrix and activate matrix metallopeptidase 2. It is unclear how a shortage of this enzyme leads to the signs and symptoms of Winchester syndrome. It is possible that a loss of matrix ...
    https://medlineplus.gov/genetics/gene/mmp14 - Genetics
  9. NOTCH1 gene 
    ... the NOTCH1 gene mutations involved in Adams-Oliver syndrome lead to production of an abnormally short protein that is likely broken down quickly, causing a shortage of Notch1. Other mutations ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  10. UBA1 gene 
    ... these damaged or unneeded proteins are not broken down, they can impair normal cell ... About This Health Condition Variants in the ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
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