Phospholipase C epsilon 1 (PLCE1) (NM_016341) Human Tagged ORF Clone

CAT#: RC213202

  • TrueORF®

PLCE1 (Myc-DDK-tagged)-Human phospholipase C, epsilon 1 (PLCE1), transcript variant 1

ORF Plasmid: DDK tGFP



  "NM_016341" in other vectors (2)

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CNY 22,792.00


货期*
现货

规格
    • 10 ug

Cited in 1 publication.

Product images

经常一起买 (4)
pCMV6-Entry, mammalian vector with C-terminal Myc- DDK Tag, 10ug
    • 10 ug

CNY 5,420.00


Forward sequencing primer VP1.5, Reverse sequencing primer XL39, 100pmoles each
    • 100 pmol

CNY 480.00


DDK Rabbit monoclonal antibody, recognizing both N- and C-terminal tags
    • 30 ul

CNY 300.00


PLCE1 rabbit polyclonal antibody
    • 100 ul

CNY 1,999.00
CNY 3,280.00

Specifications

Product Data
Type Human Tagged ORF Clone
Tag Myc-DDK
Synonyms NPHS3; PLCE; PPLC
Vector pCMV6-Entry
E. coli Selection Kanamycin (25 ug/mL)
Mammalian Cell Selection Neomycin
Sequence Data
>RC213202 representing NM_016341
Red=Cloning site Blue=ORF Green=Tags(s)

TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
GCCGCGATCGCC

ATGACTTCTGAAGAAATGACAGCTTCTGTTCTCATACCTGTGACTCAGAGAAAAGTGGTTTCTGCCCAGT
CGGCTGCAGATGAAAGTAGTGAAAAGGTCTCAGACATCAATATTTCAAAAGCACATACTGTCAGACGAAG
TGGGGAGACTTCTCATACCATCTCACAACTGAACAAACTTAAAGAAGAACCTTCTGGAAGCAACTTGCCA
AAGATTCTCTCAATAGCGAGGGAGAAAATAGTGAGTGATGAGAACAGTAATGAAAAATGTTGGGAGAAAA
TCATGCCAGATTCTGCGAAAAACCTTAACATTAACTGCAACAACATATTGAGAAACCATCAGCATGGCCT
TCCTCAGAGACAATTTTATGAAATGTACAACTCTGTTGCTGAGGAAGACTTGTGTTTAGAAACTGGAATT
CCTTCTCCACTGGAAAGAAAGGTGTTCCCTGGAATTCAACTGGAACTAGACAGACCTTCCATGGGCATTA
GTCCTTTAGGAAATCAGTCAGTGATCATAGAGACAGGCAGAGCACACCCTGACAGCAGAAGGGCAGTATT
TCATTTTCATTATGAAGTTGACAGAAGAATGTCAGACACTTTCTGTACCCTATCAGAAAACTTAATTTTA
GACGATTGTGGAAATTGTGTACCACTACCTGGGGGTGAGGAGAAGCAAAAGAAAAACTATGTGGCATATA
CCTGTAAACTGATGGAATTGGCCAAAAATTGTGATAATAAGAATGAGCAGCTGCAGTGTGATCATTGTGA
CACCTTGAATGATAAATACTTTTGCTTTGAAGGCTCTTGTGAGAAGGTTGACATGGTATATTCAGGTGAT
AGCTTTTGTAGGAAAGACTTTACTGACAGTCAAGCTGCCAAGACCTTTTTGAGCCATTTTGAGGACTTCC
CTGATAATTGTGATGATGTAGAAGAAGACGCTTTTAAAAGCAAAAAGGAGCGATCCACTTTGTTAGTCAG
GAGATTCTGTAAAAATGACAGAGAAGTTAAGAAATCTGTGTATACTGGAACAAGAGCAATTGTGAGAACT
CTGCCTTCTGGCCACATTGGGCTGACTGCATGGAGTTACATAGATCAGAAGAGAAATGGTCCCTTACTGC
CTTGTGGGAGAGTAATGGAACCCCCGTCAACAGTGGAGATAAGGCAAGATGGGAGCCAACGTCTGTCAGA
AGCCCAGTGGTATCCTATCTACAATGCAGTGAGAAGAGAAGAAACAGAAAATACAGTTGGATCTCTACTC
CATTTCCTCACCAAGCTCCCAGCCTCCGAGACAGCCCATGGAAGGATAAGCGTTGGTCCATGCTTAAAGC
AATGTGTCCGAGACACTGTATGTGAGTATCGCGCCACCCTCCAAAGGACTTCAATATCGCAGTACATCAC
CGGTTCTCTCCTAGAAGCAACCACGTCTTTGGGAGCAAGAAGTGGCCTTCTCAGTACTTTTGGAGGATCC
ACTGGACGAATGATGCTGAAAGAACGCCAGCCAGGCCCCTCTGTGGCCAATTCCAATGCCCTCCCTTCAA
GTTCAGCTGGGATCAGCAAGGAGCTGATCGATCTGCAGCCTCTCATCCAGTTCCCAGAGGAAGTCGCCAG
CATCCTGATGGAGCAAGAGCAGACTATTTACCGCAGGGTCTTGCCAGTCGACTACCTTTGCTTCTTAACA
CGGGACTTGGGCACTCCTGAATGCCAGAGCTCCTTGCCCTGCCTCAAAGCATCCATCTCAGCGTCGATTC
TTACCACTCAGAATGGAGAGCACAATGCCCTTGAAGATCTGGTGATGAGGTTTAATGAGGTGAGCTCCTG
GGTGACATGGCTGATCCTCACGGCAGGCTCCATGGAGGAGAAGCGAGAAGTCTTTTCATATTTGGTGCAT
GTGGCCAAATGCTGCTGGAACATGGGCAACTACAACGCTGTCATGGAGTTCTTGGCTGGCCTCAGGTCAA
GAAAAGTTTTAAAAATGTGGCAGTTCATGGACCAGTCTGATATTGAGACCATGAGGAGCCTGAAGGATGC
TATGGCCCAGCATGAGTCCTCTTGTGAGTACAGAAAGGTGGTGACACGTGCCCTGCACATCCCTGGCTGT
AAGGTGGTTCCATTCTGTGGGGTGTTTCTGAAGGAGCTCTGTGAAGTGCTTGACGGCGCCTCCGGTCTCA
TGAAGCTTTGCCCGCGGTACAATTCCCAAGAAGAAACTTTAGAGTTTGTAGCAGATTACAGTGGACAAGA
TAATTTCTTACAACGAGTGGGACAAAATGGCTTAAAGAATTCGGAGAAGGAGTCCACTGTCAACAGCATC
TTTCAGGTCATCCGGAGCTGCAATCGAAGTCTGGAGACAGACGAGGAGGACAGCCCCAGTGAAGGAAACA
GCTCCAGGAAAAGCTCCTTGAAGGATAAAAGCCGATGGCAGTTTATAATTGGAGATTTGTTGGATTCAGA
CAATGACATCTTTGAGCAATCCAAAGAATACGACTCTCATGGTTCAGAGGACTCACAGAAGGCCTTCGAC
CATGGGACGGAGCTCATCCCTTGGTACGTGCTGTCCATCCAAGCCGATGTGCACCAGTTCCTGCTGCAGG
GGGCCACGGTCATCCACTACGACCAGGACACACACCTCTCTGCCCGCTGCTTCCTCCAGCTTCAGCCCGA
CAATAGCACCTTGACCTGGGTAAAGCCCACAACTGCCTCCCCAGCCAGCAGTAAAGCAAAACTTGGTGTA
CTTAATAACACAGCTGAGCCTGGAAAATTCCCACTACTGGGTAATGCTGGATTAAGTAGCCTGACGGAAG
GGGTCTTGGATCTTTTTGCAGTGAAGGCTGTATACATGGGCCACCCTGGCATTGATATACACACTGTGTG
TGTTCAGAACAAACTGGGTAGCATGTTCCTGTCAGAGACTGGTGTGACATTGCTCTATGGGCTTCAGACC
ACAGACAACAGATTATTGCACTTCGTGGCACCAAAGCACACAGCTAAAATGCTCTTCAGCGGATTATTGG
AACTCACTAGAGCTGTGAGAAAGATGAGGAAATTCCCTGACCAAAGACAGCAGTGGCTGCGGAAACAGTA
CGTCAGCCTTTATCAGGAGGATGGACGGTATGAAGGCCCAACTTTGGCTCACGCTGTGGAGTTGTTTGGT
GGCAGACGGTGGAGTGCTCGAAACCCCAGCCCCGGAACATCAGCAAAGAATGCTGAGAAGCCCAATATGC
AGAGAAACAATACCCTGGGCATAAGCACTACCAAGAAAAAGAAGAAAATCCTCATGAGGGGTGAGAGTGG
AGAGGTAACTGACGATGAGATGGCAACCCGAAAGGCCAAGATGCACAAAGAGTGTCGAAGCCGGAGTGGT
TCTGATCCTCAAGACATTAATGAACAAGAAGAATCAGAGGTGAATGCCATCGCTAACCCTCCAAACCCCC
TCCCTTCCAGAAGAGCCCACTCTTTGACCACAGCTGGGTCCCCCAACTTGGCTGCCGGGACGTCATCTCC
CATCAGGCCAGTGTCCTCCCCTGTGCTGTCTTCTTCAAACAAGAGCCCATCCAGTGCTTGGAGCAGTAGT
AGCTGGCACGGGCGGATCAAAGGCGGCATGAAGGGATTTCAGAGCTTCATGGTTTCAGATAGCAACATGA
GTTTTGTTGAATTTGTTGAGCTGTTCAAATCATTCAGTGTCAGGAGCCGCAAGGACCTGAAGGATCTGTT
TGATGTCTATGCAGTGCCCTGCAACCGATCTGGCTCCGAGTCAGCCCCACTCTACACCAACCTGACAATT
GATGAAAACACCAGCGATCTTCAGCCTGACCTAGATCTGTTGACCAGAAATGTCTCGGATTTGGGGTTGT
TCATTAAGAGTAAACAGCAGCTATCGGACAACCAGAGGCAGATATCTGATGCCATTGCTGCTGCAAGCAT
TGTGACAAATGGCACTGGGATTGAGAGCACATCTCTGGGCATTTTTGGGGTGGGCATACTTCAGCTCAAC
GATTTCCTCGTGAATTGCCAAGGAGAACACTGCACTTATGATGAAATCCTCAGCATCATCCAGAAGTTCG
AGCCTAGCATCAGTATGTGTCATCAGGGACTAATGTCATTTGAAGGGTTTGCCAGGTTTCTGATGGATAA
AGAAAATTTTGCCTCAAAAAATGATGAGTCACAGGAGAACATTAAAGAACTGCAGCTACCCCTCTCATAC
TATTACATCGAATCTTCGCACAATACCTACCTCACGGGCCATCAGCTCAAAGGAGAATCCTCGGTAGAAC
TCTACAGCCAGGTCCTTTTGCAAGGCTGTCGAAGTGTAGAATTGGACTGCTGGGACGGAGACGATGGGAT
GCCCATCATTTATCATGGACATACGCTGACAACCAAGATCCCCTTCAAGGAAGTGGTTGAAGCCATTGAT
CGCAGTGCCTTCATCAACTCTGACCTGCCAATCATCATATCGATTGAGAACCACTGTTCATTGCCTCAGC
AACGAAAAATGGCAGAAATTTTCAAGACTGTGTTTGGAGAAAAGCTGGTGACTAAATTCTTATTTGAGAC
TGATTTCTCAGATGATCCAATGCTTCCTTCACCTGACCAACTCAGAAAGAAAGTTCTTCTTAAAAACAAG
AAGCTAAAAGCCCATCAGACGCCAGTGGATATCTTAAAGCAAAAGGCTCATCAGTTAGCATCTATGCAAG
TGCAGGCTTATAATGGTGGGAATGCCAACCCCCGACCTGCCAATAATGAGGAAGAGGAAGATGAGGAGGA
CGAATATGATTATGACTATGAATCCCTTTCTGATGACAACATTCTGGAAGACAGACCTGAAAATAAATCA
TGTAATGACAAGCTTCAGTTTGAATATAATGAAGAAATCCCAAAGAGGATAAAGAAAGCAGATAACTCTG
CTTGCAACAAAGGAAAGGTTTATGATATGGAACTGGGAGAAGAATTTTATCTTGATCAGAATAAAAAGGA
AAGCAGACAGATTGCACCAGAGCTTTCTGACCTTGTAATCTATTGTCAAGCAGTAAAATTTCCAGGACTG
TCAACTCTAAATGCATCTGGCTCTAGCAGAGGAAAAGAAAGGAAAAGCAGGAAGTCCATTTTTGGCAACA
ATCCGGGCAGAATGAGCCCAGGGGAGACAGCATCATTTAACAAAACATCTGGAAAAAGTTCCTGTGAAGG
CATTCGACAGACCTGGGAGGAATCTTCTTCCCCTCTCAACCCAACCACGTCCCTCAGTGCTATCATTAGA
ACTCCCAAATGTTATCATATCTCGTCGCTGAATGAAAATGCCGCCAAACGTCTGTGTCGCAGGTATTCTC
AGAAACTGACCCAGCACACCGCCTGTCAGCTGCTGAGAACTTACCCTGCTGCCACCCGCATCGACTCTTC
CAACCCGAACCCCCTCATGTTCTGGCTCCATGGGATACAGCTTGTGGCACTCAACTACCAGACTGATGAT
CTCCCTTTACATTTAAATGCTGCAATGTTTGAGGCAAATGGTGGTTGTGGTTATGTATTGAAACCTCCAG
TTCTGTGGGACAAGAACTGCCCCATGTATCAGAAGTTTTCTCCACTAGAAAGAGATCTGGACAGCATGGA
TCCTGCAGTCTATTCTTTAACTATTGTCTCTGGTCAGAATGTGTGCCCCAGTAATAGCATGGGAAGCCCG
TGCATTGAAGTCGACGTCCTGGGCATGCCTCTGGACAGCTGCCATTTCCGCACAAAGCCCATCCATCGAA
ACACCCTGAACCCCATGTGGAACGAGCAGTTTCTGTTCCACGTTCACTTCGAAGATCTTGTATTTCTTCG
TTTTGCAGTTGTGGAAAACAATAGTTCAGCGGTAACTGCTCAGAGAATCATTCCACTGAAAGCTTTAAAA
CGAGGATATCGACATCTTCAGCTGCGAAACCTTCACAATGAAGTCTTGGAGATTTCTAGTTTATTCATTA
ACAGCAGAAGGATGGAAGAAAATTCCTCTGGCAATACCATGTCAGCCTCTTCGATGTTTAATACAGAAGA
AAGAAAATGTTTGCAGACTCACAGAGTCACGGTGCATGGGGTCCCAGGGCCAGAGCCCTTTACCGTTTTC
ACTATTAATGGAGGCACCAAGGCAAAGCAGCTTCTGCAGCAAATTCTGACAAATGAACAAGACATCAAAC
CTGTTACCACAGACTATTTTTTGATGGAAGAAAAATATTTTATATCTAAAGAAAAGAATGAATGTAGGAA
ACAACCATTCCAGAGAGCCATTGGTCCAGAAGAGGAGATCATGCAAATTTTAAGCAGCTGGTTTCCAGAA
GAGGGATACATGGGCAGGATTGTCTTAAAAACCCAGCAGGAAAACCTAGAAGAGAAAAACATTGTTCAAG
ATGACAAAGAGGTGATCTTGAGCTCAGAGGAGGAGAGTTTCTTTGTCCAAGTGCATGATGTTTCTCCAGA
GCAACCTCGAACAGTCATCAAAGCACCCCGCGTCAGCACTGCACAGGATGTCATTCAGCAGACCTTATGC
AAAGCCAAATATTCCTACAGCATCCTGAGCAACCCCAATCCAAGCGACTATGTGCTTTTGGAAGAGGTGG
TGAAAGACACTACCAACAAGAAGACTACCACACCAAAGTCCTCTCAGCGGGTCCTTCTGGATCAGGAGTG
TGTGTTTCAAGCCCAAAGCAAGTGGAAAGGTGCAGGAAAATTCATCCTTAAGCTAAAGGAGCAGGTGCAG
GCATCTCGAGAAGATAAAAAGAAAGGCATTTCTTTCGCAAGTGAACTCAAGAAGCTCACCAAGTCAACTA
AACAGCCCCGAGGACTTACATCACCTTCTCAGCTCTTGACCTCAGAAAGTATCCAAACCAAGGAGGAGAA
ACCTGTGGGTGGCTTGTCCTCCAGTGACACAATGGATTACCGACAG


ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT
ACAAGGATGACGACGATAAG
GTTTAA
>RC213202 representing NM_016341
Red=Cloning site Green=Tags(s)

MTSEEMTASVLIPVTQRKVVSAQSAADESSEKVSDINISKAHTVRRSGETSHTISQLNKLKEEPSGSNLP
KILSIAREKIVSDENSNEKCWEKIMPDSAKNLNINCNNILRNHQHGLPQRQFYEMYNSVAEEDLCLETGI
PSPLERKVFPGIQLELDRPSMGISPLGNQSVIIETGRAHPDSRRAVFHFHYEVDRRMSDTFCTLSENLIL
DDCGNCVPLPGGEEKQKKNYVAYTCKLMELAKNCDNKNEQLQCDHCDTLNDKYFCFEGSCEKVDMVYSGD
SFCRKDFTDSQAAKTFLSHFEDFPDNCDDVEEDAFKSKKERSTLLVRRFCKNDREVKKSVYTGTRAIVRT
LPSGHIGLTAWSYIDQKRNGPLLPCGRVMEPPSTVEIRQDGSQRLSEAQWYPIYNAVRREETENTVGSLL
HFLTKLPASETAHGRISVGPCLKQCVRDTVCEYRATLQRTSISQYITGSLLEATTSLGARSGLLSTFGGS
TGRMMLKERQPGPSVANSNALPSSSAGISKELIDLQPLIQFPEEVASILMEQEQTIYRRVLPVDYLCFLT
RDLGTPECQSSLPCLKASISASILTTQNGEHNALEDLVMRFNEVSSWVTWLILTAGSMEEKREVFSYLVH
VAKCCWNMGNYNAVMEFLAGLRSRKVLKMWQFMDQSDIETMRSLKDAMAQHESSCEYRKVVTRALHIPGC
KVVPFCGVFLKELCEVLDGASGLMKLCPRYNSQEETLEFVADYSGQDNFLQRVGQNGLKNSEKESTVNSI
FQVIRSCNRSLETDEEDSPSEGNSSRKSSLKDKSRWQFIIGDLLDSDNDIFEQSKEYDSHGSEDSQKAFD
HGTELIPWYVLSIQADVHQFLLQGATVIHYDQDTHLSARCFLQLQPDNSTLTWVKPTTASPASSKAKLGV
LNNTAEPGKFPLLGNAGLSSLTEGVLDLFAVKAVYMGHPGIDIHTVCVQNKLGSMFLSETGVTLLYGLQT
TDNRLLHFVAPKHTAKMLFSGLLELTRAVRKMRKFPDQRQQWLRKQYVSLYQEDGRYEGPTLAHAVELFG
GRRWSARNPSPGTSAKNAEKPNMQRNNTLGISTTKKKKKILMRGESGEVTDDEMATRKAKMHKECRSRSG
SDPQDINEQEESEVNAIANPPNPLPSRRAHSLTTAGSPNLAAGTSSPIRPVSSPVLSSSNKSPSSAWSSS
SWHGRIKGGMKGFQSFMVSDSNMSFVEFVELFKSFSVRSRKDLKDLFDVYAVPCNRSGSESAPLYTNLTI
DENTSDLQPDLDLLTRNVSDLGLFIKSKQQLSDNQRQISDAIAAASIVTNGTGIESTSLGIFGVGILQLN
DFLVNCQGEHCTYDEILSIIQKFEPSISMCHQGLMSFEGFARFLMDKENFASKNDESQENIKELQLPLSY
YYIESSHNTYLTGHQLKGESSVELYSQVLLQGCRSVELDCWDGDDGMPIIYHGHTLTTKIPFKEVVEAID
RSAFINSDLPIIISIENHCSLPQQRKMAEIFKTVFGEKLVTKFLFETDFSDDPMLPSPDQLRKKVLLKNK
KLKAHQTPVDILKQKAHQLASMQVQAYNGGNANPRPANNEEEEDEEDEYDYDYESLSDDNILEDRPENKS
CNDKLQFEYNEEIPKRIKKADNSACNKGKVYDMELGEEFYLDQNKKESRQIAPELSDLVIYCQAVKFPGL
STLNASGSSRGKERKSRKSIFGNNPGRMSPGETASFNKTSGKSSCEGIRQTWEESSSPLNPTTSLSAIIR
TPKCYHISSLNENAAKRLCRRYSQKLTQHTACQLLRTYPAATRIDSSNPNPLMFWLHGIQLVALNYQTDD
LPLHLNAAMFEANGGCGYVLKPPVLWDKNCPMYQKFSPLERDLDSMDPAVYSLTIVSGQNVCPSNSMGSP
CIEVDVLGMPLDSCHFRTKPIHRNTLNPMWNEQFLFHVHFEDLVFLRFAVVENNSSAVTAQRIIPLKALK
RGYRHLQLRNLHNEVLEISSLFINSRRMEENSSGNTMSASSMFNTEERKCLQTHRVTVHGVPGPEPFTVF
TINGGTKAKQLLQQILTNEQDIKPVTTDYFLMEEKYFISKEKNECRKQPFQRAIGPEEEIMQILSSWFPE
EGYMGRIVLKTQQENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQTLC
KAKYSYSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQ
ASREDKKKGISFASELKKLTKSTKQPRGLTSPSQLLTSESIQTKEEKPVGGLSSSDTMDYRQ

TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites SgfI-MluI      Cloning Scheme for this gene      Plasmid Map     
ACCN NM_016341
ORF Size 6906 bp
OTI Disclaimer Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery.

The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Product Components The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
Reconstitution 1. Centrifuge at 5,000xg for 5min.
2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA.
3. Close the tube and incubate for 10 minutes at room temperature.
4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom.
5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.
Reference Data
RefSeq NM_016341.4
RefSeq Size 7992 bp
RefSeq ORF 6909 bp
Locus ID 51196
UniProt ID Q9P212
Domains C2, RA, PI-PLC-X, PI-PLC-Y, RasGEF
Protein Families Druggable Genome
Protein Pathways Calcium signaling pathway, Inositol phosphate metabolism, Metabolic pathways, Phosphatidylinositol signaling system
MW 259.2 kDa
Gene Summary This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
*Delivery time may vary from web posted schedule. Occasional delays may occur due to unforeseen complexities in the preparation of your product. International customers may expect an additional 1-2 weeks in shipping.

Citations (1)

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