Mutated in human diseases

Articles

• SRY
  15 December 2004

  testis-determining gene SRY

• SCARB2
  25 March 2008

  SCARB2/LIMP-2, CD36L2, LIMP2

• CXORF5
  21 January 2006

  Etiology
  mutations in CXORF5 gene in orofaciodigital syndrome type 1 (OFD1) CXORF5 was identified by positional cloning, and its product localizes to basal bodies of polarized renal epithelial cells. Although this is the first gene identified in CDK that is associated with facial and dental malformations, its gene product, again, fulfils the rule of centrosomal expression.
  See also
  cilium and basal body
  ciliary (...)

• NPHS1
  7 March 2007

  nephrin

• GATA3
  24 May 2005

  GATA-3
  PO
  Definition: GATA3 is a zinc-finger transcription factor (ZFNs), which is expressed in various normal and neoplastic tissues.
  GATA3 is a transcription factor important in the differentiation of breast epithelia, urothelia, and subsets of T-lymphocytes.
  It has been suggested useful in the evaluation of mammary or urothelial origin or metastatic carcinomas. GATA3 is a useful marker in characterization not only mammary carcinomas and urothelial carcinoma but also for renal tumors (...)

• YARS
  27 February 2006

  tyrosyl-tRNA synthetase

• SIL1
  28 February 2006

  SIL1 encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5.
  SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum.
  SIL1 is a resident endoplasmic reticulum (ER) glycoprotein that interacts with the ATPase domain of BIP (HSPA5) (MIM.138120) and enhances nucleotide exchange.
  Pathology
  germline mutations of the SIL1 gene (...)

• C3
  22 February 2006

  Subtypes C3a C3b
  Pathology
  C3 deficiency
  C3 deposits
  References
  Tausk F, Gigli I. The human C3b receptor: function and role in human diseases. J Invest Dermatol. 1990 Jun;94(6 Suppl):141S-145S. PMID: #2141047#

• NAT2
  17 February 2006

  The human N-acetyltransferase genes NAT1 and NAT2 encode two phase-II enzymes that metabolize various drugs and carcinogens. Functional variability at these genes has been associated with adverse drug reactions and cancer susceptibility.
  Pathology
  Mutations in NAT2 leading to the so-called slow-acetylation phenotype reach high frequencies worldwide, which questions the significance of altered acetylation in human adaptation.
  NAT2*5B haplotype, which seems to have conferred a selective (...)

• ATP13A2
  11 February 2008

  ATP13A2 belongs to the P-type superfamily of ATPases that transport inorganic cations and other substrates across cell membranes.
  Pathology
  germline mutations in early-onset parkinsonism with dementia close to Kufor-Rakeb syndrome (KRS) (MIM.606693)
  See also
  8 mutated Parkinson disease genes known (2008) SNCA PARK2 UCHL1 PINK1 DJ1 LRRK2 ATP13A2 HTRA2
  References
  Di Fonzo, A.; Chien, H. F.; Socal, M.; Giraudo, S.; Tassorelli, C.; Iliceto, G.; Fabbrini, F.; Marconi, R.; Fincati, (...)

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