Annotation Detail
Information
- Associated Genes
- HSPB1
- Associated Variants
-
SOD1 p.Gly38Arg (p.G38R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly42Asp (p.G42D) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly38Arg (p.G38R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly42Asp (p.G42D) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that heat shock proteins (Hsp70, Hsp27, or Hsp25) block the uptake of the FALS-associated mutant SOD1 (G37R, G41D, or G93A), while having no effect on wild-type SOD1.
- Pubmed
- 12060716
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2002
Drugs