KEGG   VARIANT: 27315v1
Entry
27315v1                      Variant                               
Name
PGAP2 deficiency
Type
Loss of function
Gene
PGAP2  post-GPI attachment to proteins 2 [KO:K23552]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615187
Network
nt06018  GPI-anchor biosynthesis
Disease
H01488  Hyperphosphatasia with mental retardation syndrome
Reference
PMID:23561847
  Authors
Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D
  Title
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
  Journal
Am J Hum Genet 92:584-9 (2013)
DOI:10.1016/j.ajhg.2013.03.011
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