Genomes and Genes
Gene Symbol: SPPL2C
Description: signal peptide peptidase like 2C
Alias: IMP5, signal peptide peptidase-like 2C, IMP-5, SPP-like 2C, intramembrane protease 5
- Wu M, Assassi S, Salazar G, Pedroza C, Gorlova O, Chen W, et al. Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients. Arthritis Res Ther. 2016;18:20 pubmed publisher..29, CI 95 % -3.85 to -0.74, p valueâ€‰=â€‰0.004) rs17690703 in SPPL2C (Î²â€‰=â€‰2.04, CI 95 % 0.21 to 3.88, p valueâ€‰=â€‰0...
- Park J, Cai J, McIntosh I, Jabs E, Fallin M, Ingersoll R, et al. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. J Med Genet. 2006;43:598-608 pubmed..Three other genes showing statistical evidence (ADH1C, SCN3B, and IMP5) were not expressed in the embryonic tissues examined here...
- Li R, Brockschmidt F, Kiefer A, Stefansson H, Nyholt D, Song K, et al. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet. 2012;8:e1002746 pubmed publisher..78, p?=?1.4×10???]. Our results highlight unexpected associations between early-onset AGA, Parkinson's disease, and decreased fertility, providing important insights into the pathophysiology of these conditions. ..
- Friedmann E, Lemberg M, Weihofen A, Dev K, Dengler U, Rovelli G, et al. Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. J Biol Chem. 2004;279:50790-8 pubmed..Other than presenilins, SPPL2a, -2b, -2c, and -3 are therefore predicted to cleave type II-oriented substrate peptides like the prototypic protease SPP. ..
- Friedmann E, Hauben E, Maylandt K, Schleeger S, Vreugde S, Lichtenthaler S, et al. SPPL2a and SPPL2b promote intramembrane proteolysis of TNFalpha in activated dendritic cells to trigger IL-12 production. Nat Cell Biol. 2006;8:843-8 pubmed..Our study reveals a critical function for SPPL2a and SPPL2b in the regulation of innate and adaptive immunity. ..
- Martin L, Fluhrer R, Reiss K, Kremmer E, Saftig P, Haass C. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. J Biol Chem. 2008;283:1644-52 pubmed..SPP-like (SPPL) proteases, such as SPPL2a, SPPL2b, SPPL2c, and SPPL3, also belong to the GXGD family...
- Noth I, Zhang Y, Ma S, Flores C, Barber M, Huang Y, et al. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. Lancet Respir Med. 2013;1:309-317 pubmed publisher..Our aim was to identify additional common variants associated with susceptibility and ultimately mortality in IPF...
- Grigorenko A, Moliaka Y, Korovaitseva G, Rogaev E. Novel class of polytopic proteins with domains associated with putative protease activity. Biochemistry (Mosc). 2002;67:826-35 pubmed..The data demonstrate that a conservative class of putative protease-related polytopic proteins related to presenilins exists in multicellular eukaryotes and microorganisms. ..