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Presenilin sel-12 (Suppressor/enhancer of lin-12 protein 12)

 PSN_CAEEL               Reviewed;         444 AA.
P52166; Q20076; Q9U9C7;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
27-MAY-2002, sequence version 2.
13-FEB-2019, entry version 148.
RecName: Full=Presenilin sel-12;
AltName: Full=Suppressor/enhancer of lin-12 protein 12;
Name=sel-12; ORFNames=F35H12.3;
Caenorhabditis elegans.
Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida;
Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae;
Caenorhabditis.
NCBI_TaxID=6239;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND MUTAGENESIS OF CYS-60.
STRAIN=Bristol N2;
PubMed=7566091; DOI=10.1038/377351a0;
Levitan D., Greenwald I.;
"Facilitation of lin-12-mediated signalling by sel-12, a
Caenorhabditis elegans S182 Alzheimer's disease gene.";
Nature 377:351-354(1995).
[2]
SEQUENCE REVISION TO 84-85.
Levitan D.;
Submitted (JAN-1996) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND TISSUE SPECIFICITY.
STRAIN=Bristol N2;
PubMed=10917532; DOI=10.1038/35018575;
Wittenburg N., Eimer S., Lakowski B., Roehrig S., Rudolph C.,
Baumeister R.;
"Presenilin is required for proper morphology and function of neurons
in C. elegans.";
Nature 406:306-309(2000).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=Bristol N2;
PubMed=9851916; DOI=10.1126/science.282.5396.2012;
The C. elegans sequencing consortium;
"Genome sequence of the nematode C. elegans: a platform for
investigating biology.";
Science 282:2012-2018(1998).
[5]
INTERACTION WITH SEL-10.
PubMed=9861048; DOI=10.1073/pnas.95.26.15787;
Wu G., Hubbard E.J.A., Kitajewski J.K., Greenwald I.;
"Evidence for functional and physical association between
Caenorhabditis elegans SEL-10, a Cdc4p-related protein, and SEL-12
presenilin.";
Proc. Natl. Acad. Sci. U.S.A. 95:15787-15791(1998).
[6]
FUNCTION, AND MUTAGENESIS OF GLY-60.
PubMed=12413907; DOI=10.1006/dbio.2002.0782;
Eimer S., Donhauser R., Baumeister R.;
"The Caenorhabditis elegans presenilin sel-12 is required for
mesodermal patterning and muscle function.";
Dev. Biol. 251:178-192(2002).
[7]
DEVELOPMENTAL STAGE.
PubMed=12668626; DOI=10.1242/dev.00429;
Lakowski B., Eimer S., Goebel C., Boettcher A., Wagler B.,
Baumeister R.;
"Two suppressors of sel-12 encode C2H2 zinc-finger proteins that
regulate presenilin transcription in Caenorhabditis elegans.";
Development 130:2117-2128(2003).
-!- FUNCTION: Probable catalytic subunit of the gamma-secretase
complex, an endoprotease complex that catalyzes the intramembrane
cleavage of integral membrane proteins such as Notch receptors
(lin-12 or glp-1). Provides the major presenilin function compared
to hop-1 and spe-4. Required cell-autonomously for correct neurite
connectivity of the AIY cholinergic interneurons and their correct
functioning in thermotaxis. Required for mesodermal patterning of
muscle function. {ECO:0000269|PubMed:10917532,
ECO:0000269|PubMed:12413907}.
-!- SUBUNIT: Homodimer. Component of the gamma-secretase complex, a
complex probably composed of the presenilin homodimer (sel-12,
hop-1 or spe-4), nicastrin (aph-2), aph-1 and pen-2 (Probable).
Interacts with sel-10 (PubMed:9861048).
{ECO:0000269|PubMed:9861048, ECO:0000305}.
-!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
{ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi
apparatus membrane {ECO:0000250}; Multi-pass membrane protein
{ECO:0000250}.
-!- TISSUE SPECIFICITY: Expressed in most neurons.
{ECO:0000269|PubMed:10917532}.
-!- DEVELOPMENTAL STAGE: Expressed both maternally and zygotically.
Ubiquitously expressed throughout the development and in the
adult. {ECO:0000269|PubMed:12668626}.
-!- DOMAIN: The PAL motif is required for normal active site
conformation. {ECO:0000250}.
-!- SIMILARITY: Belongs to the peptidase A22A family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAA85511.1; Type=Frameshift; Positions=413; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution (CC BY 4.0) License
-----------------------------------------------------------------------
EMBL; U35660; AAA85511.1; ALT_FRAME; mRNA.
EMBL; AF171064; AAD50991.1; -; mRNA.
EMBL; FO081301; CCD70617.1; -; Genomic_DNA.
RefSeq; NP_508175.1; NM_075774.5.
UniGene; Cel.19557; -.
ProteinModelPortal; P52166; -.
BioGrid; 45394; 56.
STRING; 6239.F35H12.3; -.
MEROPS; A22.009; -.
EPD; P52166; -.
PaxDb; P52166; -.
EnsemblMetazoa; F35H12.3; F35H12.3; WBGene00004769.
GeneID; 180441; -.
KEGG; cel:CELE_F35H12.3; -.
UCSC; F35H12.3; c. elegans.
CTD; 180441; -.
WormBase; F35H12.3; CE24946; WBGene00004769; sel-12.
eggNOG; KOG2736; Eukaryota.
eggNOG; ENOG410XPZD; LUCA.
GeneTree; ENSGT00940000174002; -.
HOGENOM; HOG000240228; -.
InParanoid; P52166; -.
KO; K04505; -.
OMA; TLCMLVV; -.
OrthoDB; 797738at2759; -.
PhylomeDB; P52166; -.
Reactome; R-CEL-1251985; Nuclear signaling by ERBB4.
Reactome; R-CEL-6798695; Neutrophil degranulation.
Reactome; R-CEL-9013507; NOTCH3 Activation and Transmission of Signal to the Nucleus.
SignaLink; P52166; -.
PRO; PR:P52166; -.
Proteomes; UP000001940; Chromosome X.
Bgee; WBGene00004769; Expressed in 5 organ(s), highest expression level in multi-cellular organism.
GO; GO:0016324; C:apical plasma membrane; IBA:GO_Central.
GO; GO:0005938; C:cell cortex; IBA:GO_Central.
GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
GO; GO:0070765; C:gamma-secretase complex; ISS:WormBase.
GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0043025; C:neuronal cell body; IBA:GO_Central.
GO; GO:0005634; C:nucleus; IBA:GO_Central.
GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:WormBase.
GO; GO:0030018; C:Z disc; IBA:GO_Central.
GO; GO:0004190; F:aspartic-type endopeptidase activity; IEA:InterPro.
GO; GO:0004175; F:endopeptidase activity; IBA:GO_Central.
GO; GO:0050435; P:amyloid-beta metabolic process; IBA:GO_Central.
GO; GO:0045176; P:apical protein localization; IDA:WormBase.
GO; GO:0006816; P:calcium ion transport; IBA:GO_Central.
GO; GO:0001708; P:cell fate specification; IMP:WormBase.
GO; GO:0016048; P:detection of temperature stimulus; IMP:UniProtKB.
GO; GO:0006509; P:membrane protein ectodomain proteolysis; IBA:GO_Central.
GO; GO:0007399; P:nervous system development; IMP:UniProtKB.
GO; GO:0007220; P:Notch receptor processing; IBA:GO_Central.
GO; GO:0007219; P:Notch signaling pathway; NAS:UniProtKB.
GO; GO:0018991; P:oviposition; IMP:WormBase.
GO; GO:0045747; P:positive regulation of Notch signaling pathway; IGI:WormBase.
GO; GO:0048563; P:post-embryonic animal organ morphogenesis; IMP:WormBase.
GO; GO:0016485; P:protein processing; IEA:InterPro.
GO; GO:0017015; P:regulation of transforming growth factor beta receptor signaling pathway; IGI:WormBase.
InterPro; IPR001686; Pept_A22A_Ceel.
InterPro; IPR001108; Peptidase_A22A.
InterPro; IPR006639; Preselin/SPP.
PANTHER; PTHR10202; PTHR10202; 1.
Pfam; PF01080; Presenilin; 1.
PRINTS; PR01072; PRESENILIN.
PRINTS; PR01075; PRESENILNSEL.
SMART; SM00730; PSN; 1.
1: Evidence at protein level;
Complete proteome; Endoplasmic reticulum; Golgi apparatus; Membrane;
Notch signaling pathway; Reference proteome; Transmembrane;
Transmembrane helix.
CHAIN 1 444 Presenilin sel-12.
/FTId=PRO_0000073903.
TOPO_DOM 1 45 Cytoplasmic. {ECO:0000255}.
TRANSMEM 46 66 Helical. {ECO:0000255}.
TOPO_DOM 67 101 Lumenal. {ECO:0000255}.
TRANSMEM 102 122 Helical. {ECO:0000255}.
TOPO_DOM 123 130 Cytoplasmic. {ECO:0000255}.
TRANSMEM 131 151 Helical. {ECO:0000255}.
TOPO_DOM 152 163 Lumenal. {ECO:0000255}.
TRANSMEM 164 184 Helical. {ECO:0000255}.
TOPO_DOM 185 189 Cytoplasmic. {ECO:0000255}.
TRANSMEM 190 210 Helical. {ECO:0000255}.
TOPO_DOM 211 212 Lumenal. {ECO:0000255}.
TRANSMEM 213 233 Helical. {ECO:0000255}.
TOPO_DOM 234 359 Cytoplasmic. {ECO:0000255}.
TRANSMEM 360 380 Helical. {ECO:0000255}.
TOPO_DOM 381 384 Lumenal. {ECO:0000255}.
TRANSMEM 385 405 Helical. {ECO:0000255}.
TOPO_DOM 406 413 Cytoplasmic. {ECO:0000255}.
INTRAMEM 414 434 Helical. {ECO:0000255}.
TOPO_DOM 435 444 Cytoplasmic. {ECO:0000255}.
MOTIF 410 412 PAL.
ACT_SITE 226 226 {ECO:0000250}.
ACT_SITE 364 364 {ECO:0000250}.
MUTAGEN 60 60 C->S: In ar131; egg-laying-defective.
{ECO:0000269|PubMed:12413907,
ECO:0000269|PubMed:7566091}.
SEQUENCE 444 AA; 50034 MW; 37ADBC124E16429C CRC64;
MPSTRRQQEG GGADAETHTV YGTNLITNRN SQEDENVVEE AELKYGASHV IHLFVPVSLC
MALVVFTMNT ITFYSQNNGR HLLYTPFVRE TDSIVEKGLM SLGNALVMLC VVVLMTVLLI
VFYKYKFYKL IHGWLIVSSF LLLFLFTTIY VQEVLKSFDV SPSALLVLFG LGNYGVLGMM
CIHWKGPLRL QQFYLITMSA LMALVFIKYL PEWTVWFVLF VISVWDLVAV LTPKGPLRYL
VETAQERNEP IFPALIYSSG VIYPYVLVTA VENTTDPREP TSSDSNTSTA FPGEASCSSE
TPKRPKVKRI PQKVQIESNT TASTTQNSGV RVERELAAER PTVQDANFHR HEEEERGVKL
GLGDFIFYSV LLGKASSYFD WNTTIACYVA ILIGLCFTLV LLAVFKRALP ALPISIFSGL
IFYFCTRWII TPFVTQVSQK CLLY


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Kits Elisa; taq POLYMERASE

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Pathways :
WP1049: G Protein Signaling Pathways
WP1165: G Protein Signaling Pathways
WP1371: G Protein Signaling Pathways
WP1438: Influenza A virus infection
WP1493: Carbon assimilation C4 pathway
WP1502: Mitochondrial biogenesis
WP1531: Vitamin D synthesis
WP1566: Citrate cycle (TCA cycle)
WP1613: 1,4-Dichlorobenzene degradation
WP1616: ABC transporters
WP1624: Bacterial secretion system
WP1625: Base excision repair
WP1644: DNA replication
WP1650: Fluorobenzoate degradation
WP1654: gamma-Hexachlorocyclohexane degradation
WP1657: Glycerolipid metabolism
WP1659: Glycine, serine and threonine metabolism
WP1661: Glyoxylate and dicarboxylate metabolism
WP1663: Homologous recombination
WP1665: Limonene and pinene degradation
WP1672: Mismatch repair
WP1673: Naphthalene and anthracene degradation
WP1675: Nitrogen metabolism
WP1676: Non-homologous end-joining
WP1678: Nucleotide excision repair

Related Genes :
[sel-12 F35H12.3] Presenilin sel-12 (Suppressor/enhancer of lin-12 protein 12)
[sel-10 egl-41 F55B12.3] F-box/WD repeat-containing protein sel-10 (Egg laying defective protein 41) (Suppressor/enhancer of lin-12 protein 10)
[PSEN1 AD3 PS1 PSNL1] Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[Psen1 Ad3h Psnl1] Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[sel-2 F10F2.1] Putative neurobeachin homolog (Suppressor enhancer of lin-12)
[Psen1 Psnl1] Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[PSEN1] Presenilin-1 (PS-1) (EC 3.4.23.-) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[PSEN1] Presenilin-1 (PS-1) (EC 3.4.23.-) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[PSEN1] Presenilin-1 (PS-1) (EC 3.4.23.-) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[PSEN1 PS1 PSNL1] Presenilin-1 (PS-1) (EC 3.4.23.-) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[PSEN1 PS1 PSNL1 QflA-13153] Presenilin-1 (PS-1) (EC 3.4.23.-) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
[rpsL strA b3342 JW3304] 30S ribosomal protein S12 (Small ribosomal subunit protein uS12)
[hmp fsrB hmpA b2552 JW2536] Flavohemoprotein (Flavohemoglobin) (HMP) (Hemoglobin-like protein) (Nitric oxide dioxygenase) (NO oxygenase) (NOD) (EC 1.14.12.17)
[CRY2 PHH1 SEL20 At1g04400 F19P19.14] Cryptochrome-2 (Atcry2) (Blue light photoreceptor) (Protein PHR homolog 1) (AtPHH1) (Protein SUPPRESSOR OF elf3 20)
[secG b3175 JW3142] Protein-export membrane protein SecG (P12) (Preprotein translocase band 1 subunit)
[FAH12 RCOM_0146820] Oleate hydroxylase FAH12 (RcFAH12) (EC 1.14.-.-) (Oleate Delta(12)-hydroxylase) (Phosphatidylcholine 12-monooxygenase) (EC 1.14.18.4)
[cydB cyd-2 b0734 JW0723] Cytochrome bd-I ubiquinol oxidase subunit 2 (EC 7.1.1.7) (Cytochrome bd-I oxidase subunit II) (Cytochrome d ubiquinol oxidase subunit II)
[folC dedC b2315 JW2312] Dihydrofolate synthase/folylpolyglutamate synthase (DHFS / FPGS) (EC 6.3.2.12) (EC 6.3.2.17) (Folylpoly-gamma-glutamate synthetase-dihydrofolate synthetase) (Folylpolyglutamate synthetase) (Tetrahydrofolylpolyglutamate synthase)
[GTF2IRD1 CREAM1 GTF3 MUSTRD1 RBAP2 WBSCR11 WBSCR12] General transcription factor II-I repeat domain-containing protein 1 (GTF2I repeat domain-containing protein 1) (General transcription factor III) (MusTRD1/BEN) (Muscle TFII-I repeat domain-containing protein 1) (Slow-muscle-fiber enhancer-binding protein) (USE B1-binding protein) (Williams-Beuren syndrome chromosomal region 11 protein) (Williams-Beuren syndrome chromosomal region 12 protein)
[cydA cyd-1 b0733 JW0722] Cytochrome bd-I ubiquinol oxidase subunit 1 (EC 7.1.1.7) (Cytochrome bd-I oxidase subunit I) (Cytochrome d ubiquinol oxidase subunit I)
[zntA yhhO b3469 JW3434] Zinc/cadmium/lead-transporting P-type ATPase (EC 3.6.3.3) (EC 7.2.2.-) (EC 7.2.2.12) (Pb(II)/Cd(II)/Zn(II)-translocating ATPase) (Zn(2+)/Cd(2+)/Pb(2+) export ATPase)
[dinG rarB b0799 JW0784] ATP-dependent DNA helicase DinG (EC 3.6.4.12)
[bcsA yhjO yhjP b3533 JW5665] Cellulose synthase catalytic subunit [UDP-forming] (EC 2.4.1.12)
[dld b2133 JW2121] Quinone-dependent D-lactate dehydrogenase (EC 1.1.5.12) ((R)-lactate:quinone 2-oxidoreductase) (D-lactate dehydrogenase) (D-LDH) (Respiratory D-lactate dehydrogenase)
[paaZ maoC ydbN b1387 JW1382] Bifunctional protein PaaZ [Includes: 2-oxepin-2(3H)-ylideneacetyl-CoA hydrolase (EC 3.3.2.12) (Oxepin-CoA hydrolase); 3-oxo-5,6-dehydrosuberyl-CoA semialdehyde dehydrogenase (EC 1.2.1.91)]
[spr-5 Y40B1B.6] Probable lysine-specific histone demethylase 1 (EC 1.-.-.-) (P110b homolog) (Suppressor of presenilin 5)
[ribB htrP b3041 JW3009] 3,4-dihydroxy-2-butanone 4-phosphate synthase (DHBP synthase) (EC 4.1.99.12)
[SUZ12 CHET9 JJAZ1 KIAA0160] Polycomb protein SUZ12 (Chromatin precipitated E2F target 9 protein) (ChET 9 protein) (Joined to JAZF1 protein) (Suppressor of zeste 12 protein homolog)
[ALOX12B] Arachidonate 12-lipoxygenase, 12R-type (12R-LOX) (12R-lipoxygenase) (EC 1.13.11.-) (Epidermis-type lipoxygenase 12)
[Alox12b Aloxe2] Arachidonate 12-lipoxygenase, 12R-type (12R-LOX) (12R-lipoxygenase) (EC 1.13.11.-) (Epidermis-type lipoxygenase 12) (Epidermis-type lipoxygenase 2) (e-LOX 2)

Bibliography :
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