Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Arg521Gly (p.R521G)
(
ENST00000254108.12,
ENST00000715542.1,
ENST00000380244.8,
ENST00000568685.1 )
FUS p.Arg521Cys (p.R521C) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521Gly (p.R521G) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521Cys (p.R521C) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- Using transgenic mice expressing a common FALS-associated FUS mutation (FUS-R521C mice), we found that mutant FUS proteins formed a stable complex with WT FUS proteins and interfered with the normal interactions between FUS and histone deacetylase 1 (HDAC1).
- Pubmed
- 24509083
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
- Year of publication
- 2013
Drugs