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Results 1 - 10 of 15 for Abnormal protein glycosylation
  1. SRD5A3 gene 
    ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  2. DOLK gene 
    ... of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues. ...
    https://medlineplus.gov/genetics/gene/dolk - Genetics
  3. LARGE1 gene 
    ... congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov ...
    https://medlineplus.gov/genetics/gene/large1 - Genetics
  4. GNE gene 
    ... Huijben KM, Lefeber DJ, Rudd PM, Wevers RA. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  5. COG5 gene 
    ... in the Golgi apparatus. This disruption results in abnormal protein glycosylation, which can affect multiple body systems, leading to ...
    https://medlineplus.gov/genetics/gene/cog5 - Genetics
  6. COG4 gene 
    ... Golgi apparatus. A dysfunctional Golgi apparatus results in abnormal protein glycosylation, which can affect multiple body systems, leading to ...
    https://medlineplus.gov/genetics/gene/cog4 - Genetics
  7. SLC35A2 gene 
    ... enzyme and lead to the production of an abnormal enzyme with reduced or no activity. Without a properly functioning enzyme, glycosylation cannot proceed normally, and oligosaccharides are incomplete. The ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  8. ALG6 gene 
    ... ALG6 gene result in the production of an abnormal enzyme with reduced or no ... cannot proceed normally, and oligosaccharides are incomplete. As ...
    https://medlineplus.gov/genetics/gene/alg6 - Genetics
  9. ALG12 gene 
    ... ALG12 gene result in the production of an abnormal enzyme with little activity. ... As a result, glycosylation is reduced. The wide variety of signs and ...
    https://medlineplus.gov/genetics/gene/alg12 - Genetics
  10. PMM2 gene 
    ... PMM2-CDG, also known as congenital disorder of glycosylation type Ia). This is a severe condition that is characterized by developmental delay, weak muscle tone (hypotonia), abnormal distribution of fat, and various other signs and ...
    https://medlineplus.gov/genetics/gene/pmm2 - Genetics
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