KEGG   VARIANT: 93210v1
Entry
93210v1                      Variant                               
Name
PGAP3 deficiency
Type
Loss of function
Gene
PGAP3  post-GPI attachment to proteins phospholipase 3 [KO:K23553]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611801
Network
nt06018  GPI-anchor biosynthesis
Disease
H01488  Hyperphosphatasia with mental retardation syndrome
Reference
PMID:24439110
  Authors
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kolsch U, Kruger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM
  Title
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
  Journal
Am J Hum Genet 94:278-87 (2014)
DOI:10.1016/j.ajhg.2013.12.012
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