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Results 1 - 10 of 10 for "L-Serine"
  1. Phosphoglycerate dehydrogenase deficiency 
    ... production of the protein building block (amino acid) serine. Specifically, the enzyme converts a substance called 3- ... to 3-phosphohydroxypyruvate in the first step in serine production. Serine is necessary for the development and ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  2. Netherton syndrome 
    ... protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is ...
    https://medlineplus.gov/genetics/condition/netherton-syndrome - Genetics
  3. Hereditary sensory neuropathy type IA 
    ... making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in ... Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary ...
    https://medlineplus.gov/.../hereditary-sensory-neuropathy-type-ia - Genetics
  4. CASK-related intellectual disability 
    ... for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily ... Citation on PubMed Hsueh YP. Calcium/calmodulin-dependent serine protein kinase and mental retardation. Ann Neurol. 2009 ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  5. PPP2R5D-related intellectual disability 
    ... Protein phosphatase 2A: a highly regulated family of serine/threonine phosphatases implicated in cell growth and signalling. ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  6. Palmoplantar keratoderma with deafness 
    ... This molecule attaches to a particular amino acid, serine (Ser), and inserts it into the appropriate locations ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  7. Microphthalmia 
    ... in PRSS56, a gene encoding a trypsin-like serine protease. Am J Hum Genet. 2011 Mar 11; ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  8. Hereditary angioedema 
    ... Ham M, Zeerleder S. C1 inhibitor: just a serine protease inhibitor? New and old considerations on therapeutic ...
    https://medlineplus.gov/genetics/condition/hereditary-angioedema - Genetics
  9. 3MC syndrome 
    ... ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  10. Peutz-Jeghers syndrome 
    ... Carballo M. De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz- ...
    https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome - Genetics