Protein

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• HOXA1
  6 October 2005

  This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.
  Pathology
  germline mutations in Bosley-Salih-Alorainy syndrome (BSAS) (MIM.601536) Athabaskan brainstem dysgenesis syndrome (MIM.601536)
  homozygous truncating mutations in HOXA1 result in phenotype including horizontal gaze abnormalities, deafness, (...)

• ATP7B
  25 February 2005

  Cu(2+)-transporting ATPase beta polypeptide

• RPE65
  20 April 2008

  The retinal pigment epithelium (RPE) is a monolayer simple epithelium apposed to the outer surface of the retinal photoreceptor cells.
  RPE is involved in many aspects of outer retinal metabolism that are essential to the continued maintenance of the photoreceptor cells, including many RPE-specific functions such as the retinoid visual cycle and photoreceptor outer segment disc phagocytosis and recycling.
  RPE65 is a unique RPE-specific microsomal protein. It is conserved in vertebrates and (...)

• FOXO1
  2 February 2007

  FKHR, FOXOA1
  Pathology
  PAX3-FOXO1 or PAX7-FOXO1 fusion genes in alveolar rhabdomyosarcoma
  Alveolar rhabdomyosarcoma (ARMS) is an aggressive neoplasm with unique t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations, resulting in PAX3/FOXO1 and PAX7/FOXO1 fusion genes, in approximately 80% of cases.
  These translocations and their gene fusions have not been identified in other neoplasms, making their identification an attractive target for applying ancillary diagnostic (...)

• BRCA1
  29 September 2003

  Wikipedia
  Definition: BRCA1 is a tumor suppressor that functions in controlling cell growth and maintaining genomic stability. The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc-finger protein of unknown function.
  BRCA1 is a tumour suppressor that has important roles in the protection against genomic instability.
  Cells lacking BRCA1 are hypersensitive to many DNA-damaging agents such as ultraviolet light and ionizing radiation, and show defects in both S- and (...)

• WBSCR14
  22 October 2007

  Williams-Beuren syndrome (WBS) (MIM.194050) is a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. A common interval that includes as many as 17 genes is deleted in most patients. CHREBP (WBSCR14) is included in this region
  WBSCR14 encodes a protein belonging to the basic helix-loop-helix (HLHs) leucine-zipper (LZs) family of transcription factors (TFs).
  Function
  Although insulin and glucagon play important roles in regulating the (...)

• CHEK1
  12 March 2006

  CHK1

• cytochrome-C
  16 February 2006

  Cytochrome c (CYCS) (MIM.123970) released from the mitochondrial intermembrane space triggers a major caspase activation cascade through the cytochrome c/APAF1/CASP9 pathway.
  Cytochrome c is located in the mitochondria of all aerobic cells and is involved in the electron transport system that functions in oxidative phosphorylation. It accepts electrons from cytochrome b and transfers them to cytochrome oxidase. In the process, the iron of the heme group, which is identical to that of (...)

• MTG16
  29 September 2008

  Pathology
  Transcription co-repressor MTG16 modulates colitis and tumor development in inflammatory carcinogenesis. MTG16 is a tumor suppressor in colitis-associated carcinoma. doi:10.1172/jci.insight.78210.
  RUNX1-MTG16 fusion gene in acute myeloblastic leukemia (#18656694#) The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity.
  References
  De Braekeleer E, (...)

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