KEGG   VARIANT: 7415v1
Entry
7415v1                      Variant                                
Name
VCP mutation
Gene
VCP  valosin containing protein [KO:K13525]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601023
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06509  DNA replication
nt06536  Mitophagy
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00264  Charcot-Marie-Tooth disease
H02031  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
Reference
PMID:29605155
  Authors
Nguyen HP, Van Broeckhoven C, van der Zee J
  Title
ALS Genes in the Genomic Era and their Implications for FTD.
  Journal
Trends Genet 34:404-423 (2018)
DOI:10.1016/j.tig.2018.03.001
Reference
PMID:28852382
  Authors
Khalil B, Lievens JC
  Title
Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway?
  Journal
Neural Regen Res 12:1052-1061 (2017)
DOI:10.4103/1673-5374.211179
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