KEGG   VARIANT: 10075v1
Entry
10075v1                      Variant                               
Name
HUWE1 mutation
Gene
HUWE1  HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [KO:K10592]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300697
Network
nt06536  Mitophagy
Disease
H00658  X-linked syndromic intellectual developmental disorder
Reference
PMID:32336296
  Authors
Giles AC, Grill B
  Title
Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.
  Journal
Neural Dev 15:6 (2020)
DOI:10.1186/s13064-020-00143-9
LinkDB

DBGET integrated database retrieval system