VARIANT: 204219v1
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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
PMID:
23754960
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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