KEGG   VARIANT: 285848v1
Entry
285848v1                      Variant                              
Name
PNPLA1 mutation
Type
Loss of function
Gene
PNPLA1  omega-hydroxyceramide transacylase isoform 3 [KO:K16813]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612121
Network
nt06545  Cornified envelope formation
Disease
H00734  Autosomal recessive congenital ichthyosis
Reference
PMID:22246504
  Authors
Grall A, Guaguere E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kury S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andre C, Fischer J
  Title
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
  Journal
Nat Genet 44:140-7 (2012)
DOI:10.1038/ng.1056
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