Mutated in human diseases

Articles

• SOX10
  9 June 2003

  Location: 22q13. SRY-BOX 10, SRY-RELATED HMG-BOX GENE 10; SRY-related HMG-box 10 (SOX10) protein PO
  Definition: SOX10 is a transcription factor known to be crucial in the specification of the neural crest and maintenance of Schwann cells and melanocytes. It is expressed in nuclei of melanocytes and breast myoepithelial cells .
  Images
  SOX10 in melanoma https://twitter.com/LisaRooperMD/status/968862378799632385
  SOX-10 NEGATIVE in basal cell carcinoma / BCC. The few positive cells (...)

• CRELD1
  29 September 2003

  CRELD1 codes for a cell adhesion molecule previously known as "cirrin". Locus AVSD2 (3p25). CRELD1 is the founding member of a family of matricellular proteins.
  EGF domains
  Epidermal growth factor-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface.
  Pathology
  missense mutations in (...)

• FOXP3
  12 November 2003

  scurfin, JM2
  Definition: FoxP3 is a marker for immunosuppressive CD25+CD4+ regulatory T cells. These regulatory T cells are thought to play a role in inducing immune tolerance to antigens and may be selectively recruited by carcinomas.
  Forkhead box P3 (FOXP3) is the gene responsible for IPEX syndrome (immune dysregulation, polyendocrinopathy, enteropathy, X-linked).
  FOXP3 is located on the X chromosome and is of crucial importance for the generation of CD4+ CD25+ regulatory T cells (...)

• ATM
  28 October 2003

  ataxia-telangiectasia mutated

• SLC4A1
  9 January 2006

  Band 3 of red cell membrane, BND3, AE1,

• RAB27A
  14 October 2003

  RAB27A codes for a small GTPase.
  Pathology
  germline RAB27A mutations in Griscelli disease (#12058346#)
  References
  Hong W. Cytotoxic T lymphocyte exocytosis: bring on the SNAREs! Trends Cell Biol. 2005 Dec;15(12):644-50. PMID: #16260137#

• OCRL1
  15 October 2003

  Definition: The OCRL1 gene encodes a phosphatidylinositol 4,5-bisphosphate-5-phosphatase localized to the trans-Golgi network that is involved in actin polymerization.
  Pathology
  germline mutations of OCRL1 in Lowe disease Dent disease
  Animal models
  Inactivation of the OCRL1 gene in mice failed to reproduce the abnormalities that occur in humans with the oculocerebrorenal syndrome, indicating that in mice, another gene product compensates for the loss of the OCRL-1 protein. (...)

• 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. (...)

• CRYBB1
  16 October 2003

  betaB1-crystallin

• COL18A1
  15 October 2003

  collagen, type XVIII, alpha 1; "endostatin", KNO1, KS

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