VARIANT: 345611v1
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Entry
345611v1 Variant
Name
IRGM mutation
Type
Loss of function
Gene
IRGM
immunity related GTPase M [KO:
K14139
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
608212
Network
nt06521
NLR signaling
Disease
H01227
Inflammatory bowel disease (IBD)
Reference
PMID:
30612879
Authors
Mehto S, Jena KK, Nath P, Chauhan S, Kolapalli SP, Das SK, Sahoo PK, Jain A, Taylor GA, Chauhan S
Title
The Crohn's Disease Risk Factor IRGM Limits NLRP3 Inflammasome Activation by Impeding Its Assembly and by Mediating Its Selective Autophagy.
Journal
Mol Cell 73:429-445.e7 (2019)
DOI:
10.1016/j.molcel.2018.11.018
Reference
PMID:
30669622
Authors
Kim S, Eun HS, Jo EK
Title
Roles of Autophagy-Related Genes in the Pathogenesis of Inflammatory Bowel Disease.
Journal
Cells 8:E77 (2019)
DOI:
10.3390/cells8010077
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