Homo sapiens (Human) lipase-like, Lipase-like abhydrolase domain-containing protein 4
A 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
MMWLLLTTTC LICGTLNAGG FLDLENEVNP EVWMNTSEII IYNGYPSEEY EVTTEDGYIL LVNRIPYGRT HARSTGPRPV VYMQHALFAD NAYWLENYAN GSLGFLLADA GYDVWMGNSR GNTWSRRHKT LSETDEKFWA FSFDEMAKYD LPGVIDFIVN KTGQEKLYFI GHSLGTTIGF VAFSTMPELA QRIKMNFALG PTISFKYPTG IFTRFFLLPN SIIKAVFGTK GFFLEDKKTK IASTKICNNK ILWLICSEFM SLWAGSNKKN MNQSRMDVYM SHAPTGSSVH NILHIKQLYH SDEFRAYDWG NDADNMKHYN QSHPPIYDLT AMKVPTAIWA GGHDVLVTPQ DVARILPQIK SLHYFKLLPD WNHFDFVWGL DAPQRMYSEI IALMKAYS
| Title : A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis - Israeli_2011_Am.J.Hum.Genet_88_482 |
| Author(s) : Israeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E |
| Ref : American Journal of Human Genetics , 88 :482 , 2011 |
| Abstract : Israeli_2011_Am.J.Hum.Genet_88_482 |
| ESTHER : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedSearch : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedID: 21439540 |
| Gene_locus related to this paper: human-LIPN |
| Title : Comparative studies of mammalian acid lipases: Evidence for a new gene family in mouse and rat (Lipo) - Holmes_2010_Comp.Biochem.Physiol.Part.D.Genomics.Proteomics_5_217 |
| Author(s) : Holmes RS , Cox LA , Vandeberg JL |
| Ref : Comparative Biochemistry & Physiology Part D Genomics Proteomics , 5 :217 , 2010 |
| Abstract : Holmes_2010_Comp.Biochem.Physiol.Part.D.Genomics.Proteomics_5_217 |
| ESTHER : Holmes_2010_Comp.Biochem.Physiol.Part.D.Genomics.Proteomics_5_217 |
| PubMedSearch : Holmes_2010_Comp.Biochem.Physiol.Part.D.Genomics.Proteomics_5_217 |
| PubMedID: 20598663 |
| Gene_locus related to this paper: human-LIPF , human-LIPJ , human-LIPK , human-LIPM , human-LIPN , mouse-LIPK |