Mutated in human diseases

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 (...)

• 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 (...)

• SLCA7
  25 September 2008

  cationic amino acid trasporter, y+ system

• PEX6
  7 October 2008

  Pathology
  germline mutations
  in complementation group 4 peroxisome biogenesis disorders (PBDs)
  in complementation group 6 peroxisome biogenesis disorders (PBDs)
  Nota bene: Peroxisome biogenesis disorders (PBDs) (MIM.601539) include Zellweger syndrome (MIM.214100), infantile Refsum disease (MIM.266510), neonatal adrenoleukodystrophy (MIM.202370), and classic rhizomelic chondrodysplasia punctata (MIM.215100).
  Somatic cell fusion complementation analysis indicates that the PBDs can be (...)

• PLOD3
  8 October 2008

  Lysyl hydroxylase 3 (LH3, encoded by PLOD3) is a multifunctional enzyme capable of catalyzing hydroxylation of lysyl residues and O-glycosylation of hydroxylysyl residues producing either monosaccharide (Gal) or disaccharide (Glc-Gal) derivatives, reactions that form part of the many posttranslational modifications required during collagen biosynthesis.
  Animal studies have confirmed the importance of LH3, particularly in biosynthesis of the highly glycosylated type IV and VI collagens, but (...)

• SLC25A15
  25 September 2008

  SLC25A15 (mitochondrial carrier, ornithine transporter) (MIM.603861): mutated in HHH syndrome (hyperornithinemia-hyperammonemia-homocitrullinuria syndrome) (MIM.238970)

• SLC1A3
  6 August 2008

  Definition: EAAT1 (SLC1A3) is a member of a family of high-affinity sodium-dependent transporter molecules that regulate neurotransmitter concentrations at the excitatory glutamatergic synapses of the mammalian central nervous system.
  Glutamate and aspartate are excitatory neurotransmitters that have been implicated in a number of pathologic states of the nervous system. Accumulation of extracellular excitatory amino acids can be cytotoxic and may also lower the seizure threshold in (...)

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