KEGG   VARIANT: 204219v1
Entry
204219v1                      Variant                              
Name
CERS3 mutation
Type
Loss of function
Gene
CERS3  ceramide synthase 3 [KO:K24622]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615276
Network
nt06545  Cornified envelope formation
Disease
H00734  Autosomal recessive congenital ichthyosis
Reference
  Authors
Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J
  Title
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
  Journal
PLoS Genet 9:e1003536 (2013)
DOI:10.1371/journal.pgen.1003536
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