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Results 1 - 10 of 1,416 for protein syndrome
  1. UBE3A gene 
    ... protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) Tests of UBE3A PubMed UBIQUITIN-PROTEIN LIGASE E3A; ... Worley PF, Steen J, Greenberg ME. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell. ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  2. ERCC8 gene 
    ... CKN1 Cockayne syndrome 1 (classical) Cockayne syndrome 1 protein Cockayne syndrome, type A CSA ERCC8_HUMAN excision repair cross- ... M, Hoeijmakers JH, Tanaka K. Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription- ...
    https://medlineplus.gov/genetics/gene/ercc8 - Genetics
  3. ANOS1 gene 
    ... HHA KAL KAL1 KALIG-1 Kallmann syndrome 1 protein Kallmann syndrome protein KALM_HUMAN KMS WFDC19 Tests of ANOS1 PubMed ... The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 1991 Oct 18; ...
    https://medlineplus.gov/genetics/gene/anos1 - Genetics
  4. WRN gene 
    ... RECQL3 Werner syndrome Werner Syndrome helicase Werner syndrome protein Werner syndrome, RecQ helicase-like WRN_HUMAN Tests of WRN ... Central Cheng WH, Muftuoglu M, Bohr VA. Werner syndrome protein: functions in the response to DNA damage and ...
    https://medlineplus.gov/genetics/gene/wrn - Genetics
  5. BLM gene 
    ... Health Condition BLM_HUMAN Bloom syndrome Bloom syndrome protein Bloom syndrome RecQ like helicase Bloom syndrome, RecQ helicase-like ... analyses of disease-causing missense mutations in Bloom syndrome protein. Nucleic Acids Res. 2007;35(18):6297-310. ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
  6. OCRL gene 
    ... About This Health Condition INPP5F LOCR Lowe oculocerebrorenal syndrome protein NPHL2 OCRL1 OCRL_HUMAN oculocerebrorenal syndrome of Lowe ... L, Rabouille C, Greene LE, Lowe M. Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking ...
    https://medlineplus.gov/genetics/gene/ocrl - Genetics
  7. ERCC6 gene 
    The ERCC6 gene provides instructions for making a protein called Cockayne syndrome B (CSB). This protein is involved in repairing ... is unclear how a loss of the CSB protein causes UV-sensitive syndrome. Additionally, it is unknown why the Arg77Ter mutation ...
    https://medlineplus.gov/genetics/gene/ercc6 - Genetics
  8. ALMS1 gene 
    ... Health Condition ALMS1_HUMAN Alstrom syndrome 1 Alstrom syndrome protein 1 KIAA0328 Tests of ALMS1 PubMed ALMS1 CENTROSOME ... Hong NA, Glynne R. A role for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS ...
    https://medlineplus.gov/genetics/gene/alms1 - Genetics
  9. EVC gene 
    ... protein Ellis van Creveld syndrome Ellis van Creveld syndrome protein EVC1 EVC_HUMAN EVCL Tests of EVC PubMed ...
    https://medlineplus.gov/genetics/gene/evc - Genetics
  10. FERMT1 gene 
    ... homolog 1 FLJ20116 KIND1 kindlerin kindlin 1 kindlin syndrome protein unc-112-related protein 1 UNC112 related protein ... of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul;73(1): ...
    https://medlineplus.gov/genetics/gene/fermt1 - Genetics
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