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Gene_locus Report for: human-LIPN

Name Class
human-LIPNNameHomo sapiens (Human) lipase-like, Lipase-like abhydrolase domain-containing protein 4
SpeciesHomo sapiens
Organismhuman
Gene_name (3)
BlockX
FamilyAcidic_Lipase
DiseaseLate-Onset Form of Autosomal-Recessive Congenital Ichthyosis
Database (9)
PaperIsraeli_2011_Am.J.Hum.Genet_88_482
Holmes_2010_Comp.Biochem.Physiol.Part.D.Genomics.Proteomics_5_217
CommentA mutation in LIPN, encoding epidermal lipase N (2 bp deletion results in the generation of a stop codon 2 aminoacids downstream of the mutation E133D), causes a late-onset form of autosomal-recessive congenital ichthyosis
Proteinhuman-LIPN
Peptidehuman-LIPN
MutationE133DfsX3_human-LIPN
Tree_nodeAbhydrolase_655521
Acidic_Lipase64068
OldTremblA7KIH9

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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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