KEGG   VARIANT: 9842v1
Entry
9842v1                      Variant                                
Name
PLKHM1 mutation
Type
Loss of function
Gene
PLEKHM1  pleckstrin homology domain-containing family M member 1 isoform 1 [KO:K23282]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611466
Network
nt06550  Lysosome biogenesis
Disease
H00436  Osteopetrosis
Reference
PMID:17404618
  Authors
Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W
  Title
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
  Journal
J Clin Invest 117:919-30 (2007)
DOI:10.1172/JCI30328
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