KEGG   VARIANT: 4351v1
Entry
4351v1                      Variant                                
Name
MPI deficiency
Type
Loss of function
Gene
MPI  mannose phosphate isomerase [KO:K01809]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 154550
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
  Authors
Sharma V, Nayak J, DeRossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH
  Title
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
  Journal
FASEB J 28:1854-69 (2014)
DOI:10.1096/fj.13-245514
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