cytosolic Cu/Zn superoxide dismutase
Home > Keywords > Proteins > Protein
Protein
Articles
-
SOD1
23 September 2003 -
HOXA1
6 October 2005This 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, (...) -
CD99
11 February 2004MIC2, E antigen, MSK5X, O13
-
LIG4
16 March 2007ATP-dependent DNA ligase 4
-
PARK2
16 December 2003parkin, PRKN
-
lysosomal acid lipase
8 June 2004Pathology
mutations of the lysosomal acid lipase gene in Wolman disease (MIM.278000) -
POL3A
14 November 2011Pathology
Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes.
POLR3B codes for the second largest subunit of Pol III.
Mutations in genes coding for Pol III subunits (POL3s) are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and hypogonadotropic (...) -
huntingtin
16 July 2003Huntingtin acts on the transcription of brain-derived neurotrophic factor (BDNF) and of many other neuronal genes and on BDNF transport.
Wild-type huntingtin sequesters Repressor element 1 (RE1)-silencing transcription factor (REST, also known as neuronal restrictive silencing factor, NRSF) in the cytoplasm in such a way that the co-repressor complex does not form at the RE1 (also known as the neuron-restrictive silencer element, NRSE) sites and the BDNF gene is transcribed.
The asterisk (...) -
APP
26 November 2003amyloid beta A4 precursor protein
-
Wingless
7 March 2004Features
Wingless signaling pathway
