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988 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... actin, which is part of the actin protein family. Proteins in this family are organized into a network ... actin, which is part of the actin protein family. Proteins in this family are organized into a network ...
  2. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... url></topic><topic ><title >DNAJC19: DnaJ heat shock protein family (Hsp40) member C19</title><url >https://medlineplus.gov/ ... url></topic><topic ><title >DNAJC5: DnaJ heat shock protein family (Hsp40) member C5</title><url >https://medlineplus.gov/ ...
  3. Citrin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1181
    ... members of the SLC25 (solute carrier family 25) protein family. Both proteins are localized in the mitochondrial inner membrane and ...
  4. SPG7 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/spg7
    ... paraplegin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Located within the inner membrane of the energy- ...
  5. Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1367
    ... that belongs to the complement factor H-related protein family. CFHR1 encodes a secreted protein that belongs to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf ...
  6. Mucolipidosis IV - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1214
    ... a member of the transient receptor potential (TRP) family. Proteins of this family are generally considered Ca 2+ channels. Mucolipin-1 ...
  7. Multiple Epiphyseal Dysplasia, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1123
    ... ligament. It is a member of the thrombospondin protein family comprising: A coiled-coil oligomerization domain Four type ... al 2005 ]. The domain structure of the matrilin family of proteins is similar; each consists of: One or two ...
  8. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... JM, Edwards AM. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. ... AJ. Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. ...
  9. Beta-Propeller Protein-Associated Neurodegeneration - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK424403
    ... a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is ... Kurian MA, Haack T, et al. Beta-Propeller Protein-Associated Neurodegeneration. 2017 Feb 16. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. ...
  10. Kindler Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349072
    ... mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. ...
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