KEGG   VARIANT: 242v1
Entry
242v1                      Variant                                 
Name
ALOX12B mutation
Type
Loss of function
Gene
ALOX12B  arachidonate 12-lipoxygenase, 12R type [KO:K08021]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603741
Network
nt06545  Cornified envelope formation
Disease
H00734  Autosomal recessive congenital ichthyosis
Reference
PMID:11773004
  Authors
Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J
  Title
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome  17p13.1.
  Journal
Hum Mol Genet 11:107-13 (2002)
DOI:10.1093/hmg/11.1.107
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