Mutated in human diseases

Articles

• SOX9
  4 July 2003

  SRY-related high-mobility group (HMG) box 9; SRY-BOX 9
  Definition: The human SOX9 gene, located in chromosome region 17q24.1-25.1, encodes a transcription factor involved in chondrogenesis, testis and pancreas development.
  The SRY-related SOX9 gene is involved in both chondrogenesis and the early steps of mammalian sex determination.
  SOX9 cooperative dimerization is required for chondrogenesis but not for sex determination and may explain why campomelic dysplasia need not be associated (...)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• COL7A1
  21 January 2005

  long-chain collagen

• TGM1
  4 February 2006

  Pathology
  germline mutations of TGM1 in genodermatosis TGM1 autosomal recessive lamellar ichthyosis MIM.242300 TGM1 congenital ichthyosiform erythroderma MIM.242100 TGM1 self-healing collodion baby MIM.242300
  See also
  TGMs: TGM1, TGM2, TGM3, TGM4, TGM5

• MADH4
  8 December 2003

  Smad4, SMAD4 (SMA- and MAD-related protein 4), DPC4 (Deleted in Pancreatic Carcinoma 4)
  Definition: The tumor suppressor gene Smad4 (MADH4, DPC4) at chromosome 18q21.1 belongs to the Smad family, which mediates the TGFbeta signaling pathway suppressing epithelial cell growth. (MIM. 600993)
  SMAD4 (MADH4) encodes a component of the TGF-alpha growth-inhibitory signal transduction pathway. The tumor suppressor function of SMAD4 lies in its capacity to mediate the effects of transforming (...)

• GLIS3
  7 April 2008

  Definition! GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.
  Functions
  GLIS3 is expressed in the pancreas from early developmental stages, with greater expression in beta cells than in other pancreatic tissues.
  These results (...)

• ANKH
  16 October 2003

  ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. It is a multiple-pass transmembrane protein that regulates pyrophosphate levels inside and outside tissue culture cells in vitro.
  Pathology
  Mutations in the progressive ankylosis gene (Ank/ANKH) cause surprisingly different skeletal phenotypes in mice and humans.
  In humans, some dominant mutations cause chondrocalcinosis, an adult-onset disease characterized by the deposition of ectopic joint crystals. (...)

• GJB6
  9 February 2005

  connexin-30

• GJA3
  9 February 2005

  connexin-46

• GJA8
  9 February 2005

  GJA8 (connexin-50) (MIM.600897)
  Pathology
  mutations in type 1 zonular pulverulent cataract (CZP1) (MIM.116200)

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