KEGG   VARIANT: 3920v1
Entry
3920v1                      Variant                                
Name
LAMP2 mutation
Type
Loss of function
Gene
LAMP2  lysosomal associated membrane protein 2 [KO:K06528]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 309060
Network
nt06532  Autophagy
Disease
H00150  Danon disease
Reference
PMID:25589223
  Authors
Endo Y, Furuta A, Nishino I
  Title
Danon disease: a phenotypic expression of LAMP-2 deficiency.
  Journal
Acta Neuropathol 129:391-8 (2015)
DOI:10.1007/s00401-015-1385-4
Reference
PMID:31277291
  Authors
Khandia R, Dadar M, Munjal A, Dhama K, Karthik K, Tiwari R, Yatoo MI, Iqbal HMN, Singh KP, Joshi SK, Chaicumpa W
  Title
A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for  Disease Prevention, Novel Drug Design, and Therapy.
  Journal
Cells 8:cells8070674 (2019)
DOI:10.3390/cells8070674
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