Mutated in human diseases

Articles

• NR5A1
  20 April 2010

  FTZ1, SF-1, ELP, AD4BP, SF1
  Definiton: Steroidogenic factor-1 (SF-1/Ad4-binding protein; NR5A1) is an essential regulator of tissue-specific gene expression in steroidogenic cells and of adrenogonadal development.
  SF-1 binds as a monomer to nuclear receptor half sites on DNA. Its transcriptional activity can be regulated by putative phospholipid ligands that bind inside its hydrophobic pocket, and by post-translational modifications, namely phosphorylation by different kinases at Ser203 (...)

• NSDHL
  6 March 2010

  NAD(P) dependent steroid dehydrogenase-like; XAP104, H105e3, SDR31E1; short chain dehydrogenase/reductase family 31E, member 1

• DGUOK
  10 March 2010

  deoxyguanosine kinase

• F5
  10 March 2010

  Factor V

• DMRT1
  20 April 2010

  doublesex and mab-3 related transcription factor 1; DM domain expressed in testis 1

• SHANK3
  13 April 2010

  SH3 and multiple ankyrin repeat domains 3

• Aβ
  14 January 2008

  A beta, beta-amyloid peptide

• SPRED1
  21 July 2010

  Pathology
  germline mutation in Legius syndrome (neurofibromatosis type 1 overlapping phenotype)
  References
  SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. J Med Genet. 2009 Jul;46(7):425-30. PMID: (...)

• SLC39A4
  21 July 2010

  SLC39A4 gene (8q24) encodes a histidine-rich protein hZIP4, a member of a large family of transmembrane proteins, some of which are known to serve as zinc-uptake proteins. (#12032886#)
  Pathology
  mutations in the SLC39A4 gene in acrodermatitis enteropathica (AE) defect in the absorption of dietary zinc.
  See also
  SLCs
  References
  An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S. Hum Mutat. 2009 (...)

• TICAM1
  10 April 2012

  TRIF; toll-like receptor adaptor molecule 1; MGC35334, PRVTIRB, TICAM-1, TRIF
  Pathology
  TICAM1 deficiency (TRIF deficiency)

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 620