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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26313 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu26313C Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_000286.2, 196114960
Length 1080 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.
Product peroxisome assembly protein 12
Comment

Summary: This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].

RefSeq NP_000277.1
CDS 617..1696
Misc Feature(1)341..343
Misc Feature(2)692..1414
Misc Feature(3)692..1414
Misc Feature(4)1091..1153
Misc Feature(5)1334..1396
Misc Feature(6)1526..1639
Exon (1)1..742
Gene:PEX12
Gene Synonym:PAF-3; PBD3A
Exon (2)743..1296
Gene:PEX12
Gene Synonym:PAF-3; PBD3A
Exon (3)1297..2683
Gene:PEX12
Gene Synonym:PAF-3; PBD3A
Translation MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFD EIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFL VLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLR YILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKM KTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN
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Position Chain Variation Link
complement(52)-dbSNP:
complement(52)-t, gdbSNP:185392500
83+c, tdbSNP:2278950
189+c, tdbSNP:321600
complement(576)-c, adbSNP:368400940
complement(582)-t, cdbSNP:374220750
complement(606)-t, cdbSNP:371137201
complement(612)-t, cdbSNP:370868594
complement(636)-t, cdbSNP:143621995
complement(641)-t, cdbSNP:376640934
642..643+, cadbSNP:61752097
complement(642)-g, adbSNP:367944383
complement(657)-t, gdbSNP:193253559
complement(659)-t, cdbSNP:200048804
complement(700)-g, adbSNP:200641558
complement(709)-t, gdbSNP:141198490
complement(718)-t, adbSNP:147530802
complement(719)-g, cdbSNP:373559171
complement(772)-dbSNP:
complement(772)-g, adbSNP:373145272
complement(805)-g, adbSNP:369640430
complement(817)-g, adbSNP:200758754
818..820+, cttdbSNP:61752098
complement(861)-c, adbSNP:140611267
876..877+, aadbSNP:61752099
complement(877)-g, adbSNP:145784404
884..887+, aagadbSNP:61752100
889+a, tdbSNP:28936698
924..925+, tdbSNP:61752101
complement(935)-g, cdbSNP:371014792
complement(951)-t, cdbSNP:376279395
complement(1025)-t, g, adbSNP:17852912
complement(1044)-t, cdbSNP:369522860
complement(1063)-g, adbSNP:375119247
complement(1067)-g, adbSNP:138731505
complement(1068)-t, cdbSNP:150186509
complement(1130)-c, adbSNP:202025715
1149..1151+, aacdbSNP:61752102
1154+c, tdbSNP:61752103
1157..1158+, tdbSNP:61752104
complement(1159)-g, adbSNP:192653658
complement(1171)-t, cdbSNP:199618544
complement(1179)-t, gdbSNP:373097667
complement(1208)-t, cdbSNP:368983576
1220+c, tdbSNP:61752105
1241+c, tdbSNP:61752106
complement(1251)-t, cdbSNP:187265849
complement(1268)-t, cdbSNP:376571044
1300..1303+dbSNP:
1300..1303+, tagtdbSNP:62642859
1307+a, tdbSNP:104894616
complement(1338)-c, adbSNP:139417458
1349..1350+, gcctdbSNP:61752107
complement(1349)-t, adbSNP:12941376
complement(1353)-t, gdbSNP:200413804
1360..1361+, tdbSNP:61752108
complement(1361)-t, cdbSNP:371597789
complement(1409)-g, adbSNP:142726996
complement(1426)-t, cdbSNP:201442874
complement(1445)-t, cdbSNP:202159096
complement(1483)-g, adbSNP:138720627
1491..1492+, ctdbSNP:61752109
1503..1504+, tcdbSNP:61752110
1503+, tdbSNP:61752111
1504..1505+, ctdbSNP:398123301
1510+, cdbSNP:398123302
complement(1519)-g, cdbSNP:145574816
complement(1521)-g, adbSNP:373860467
complement(1522)-g, adbSNP:371277434
complement(1547)-g, adbSNP:373666248
complement(1550)-g, cdbSNP:76127905
1565+c, tdbSNP:61752112
1575+c, tdbSNP:28936697
complement(1618)-t, cdbSNP:200283718
1663..1665+, acadbSNP:267608184
complement(1663)-t, cdbSNP:200789791
complement(1862)-t, gdbSNP:386512525
complement(1862)-c, adbSNP:1037590
complement(1993)-g, adbSNP:113891712
complement(2205)-c, adbSNP:192370696
complement(2212..2213)-, cdbSNP:200648389
2213+a, gdbSNP:1046321
complement(2246..2248)-, aacdbSNP:147182821
2264..2265+, ttdbSNP:397835529
complement(2265..2266)-, ttdbSNP:3031851
complement(2332)-g, adbSNP:111424374
2386+a, tdbSNP:1046326
complement(2446)-t, cdbSNP:148895599
complement(2477)-t, adbSNP:185900922
2532+c, gdbSNP:10068
complement(2575..2578)-, aagtdbSNP:3833130
complement(2576..2579)-, taagdbSNP:35050283
complement(2576)-t, gdbSNP:200106618
complement(2577)-t, cdbSNP:201783255
complement(2578)-g, adbSNP:200996102
2613+a, gdbSNP:1046335
complement(2663..2667)-, tttatdbSNP:370856031
Gene SymbolPEX12
Gene SynonymPAF-3; PBD3A
Chromosome17
Locus Map17q12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000286 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. On-demand $219.00 7-9
Title Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders .
Author Yik WY, Steinberg SJ, Moser AB, Moser HW and Hacia JG.
Journal Hum. Mutat. 30 (3), E467-E480 (2009)
Title A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C .
Author Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A and Korman SH.
Journal J. Hum. Genet. 52 (7), 599-606 (2007)
Title The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes .
Author Mano S, Nakamori C, Nito K, Kondo M and Nishimura M.
Journal Plant J. 47 (4), 604-618 (2006)
Title Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism .
Author Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schutz M, Marquardt T, Smeitink JA, Waterham HR and Wanders RJ.
Journal Hum. Mutat. 24 (2), 130-139 (2004)
Title Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli .
Author Schrader M, Reuber BE, Morrell JC, Jimenez-Sanchez G, Obie C, Stroh TA, Valle D, Schroer TA and Gould SJ.
Journal J. Biol. Chem. 273 (45), 29607-29614 (1998)
Title PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p .
Author Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N and Fujiki Y.
Journal Mol. Cell. Biol. 18 (7), 4324-4336 (1998)
Title PEX12 encodes an integral membrane protein of peroxisomes .
Author Okumoto,K. and Fujiki,Y.
Journal Nat. Genet. 17 (3), 265-266 (1997)
Title Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders .
Author Chang CC, Lee WH, Moser H, Valle D and Gould SJ.
Journal Nat. Genet. 15 (4), 385-388 (1997)
Title Leukodystrophy Overview .
Author Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and Van der Knaap,M.S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum .
Author Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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