Gene_Locus Report

Biblio print

Add to basket

Go to basket

Tree Display

AceDB Schema

XML Display

Feedback

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_nameOTTHUMP00000020037
lipN
LIPL4
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_653769
Acidic_Lipase62733
OldTremblA7KIH9

Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page
webmaster

Acknowledgements and disclaimer