KEGG   VARIANT: 56270v1
Entry
56270v1                      Variant                               
Name
WDR45B mutation
Type
Loss of function
Gene
WDR45B  WD repeat domain 45B [KO:K22991]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609226
Network
nt06532  Autophagy
Disease
H02861  Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Reference
PMID:33636118
  Authors
Ji C, Zhao H, Chen D, Zhang H, Zhao YG
  Title
beta-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells.
  Journal
Curr Biol 31:1666-1677.e6 (2021)
DOI:10.1016/j.cub.2021.01.081
LinkDB

DBGET integrated database retrieval system