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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000286 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_000286.2, 196114960
Length 2693 bp
Structure linear
Update Date 17-APR-2013
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..1648
Misc Feature(7)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
complement(83)-t, cdbSNP:2278950
complement(189)-t, cdbSNP:321600
complement(636)-t, cdbSNP:143621995
complement(642..643)-, cadbSNP:61752097
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(743)-dbSNP:
complement(743)-, cdbSNP:36033015
complement(817)-g, adbSNP:200758754
complement(818..820)-, cttdbSNP:61752098
complement(861)-c, adbSNP:140611267
complement(876..877)-, aadbSNP:61752099
complement(877)-g, adbSNP:145784404
complement(884..887)-, aagadbSNP:61752100
complement(889)-t, adbSNP:28936698
complement(924..925)-, tdbSNP:61752101
complement(1025)-t, g, adbSNP:17852912
complement(1067)-g, adbSNP:138731505
complement(1068)-t, cdbSNP:150186509
complement(1130)-c, adbSNP:202025715
complement(1149..1151)-, aacdbSNP:61752102
complement(1154)-t, cdbSNP:61752103
complement(1157..1158)-, tdbSNP:61752104
complement(1159)-g, adbSNP:192653658
complement(1171)-t, cdbSNP:199618544
complement(1220)-t, cdbSNP:61752105
complement(1241)-t, cdbSNP:61752106
complement(1251)-t, cdbSNP:187265849
complement(1296)-g, cdbSNP:150686993
complement(1300..1303)-dbSNP:
complement(1300..1303)-, tagtdbSNP:62642859
complement(1307)-t, adbSNP:104894616
complement(1338)-c, adbSNP:139417458
complement(1349..1350)-, gcctdbSNP:61752107
complement(1349)-t, adbSNP:12941376
complement(1353)-t, gdbSNP:200413804
complement(1360..1361)-, tdbSNP:61752108
complement(1409)-g, adbSNP:142726996
complement(1426)-t, cdbSNP:201442874
complement(1445)-t, cdbSNP:202159096
complement(1483)-g, adbSNP:138720627
complement(1491..1492)-, ctdbSNP:61752109
complement(1503..1504)-, tcdbSNP:61752110
complement(1503)-, tdbSNP:61752111
complement(1519)-g, cdbSNP:145574816
complement(1550)-g, cdbSNP:76127905
complement(1565)-t, cdbSNP:61752112
complement(1575)-t, cdbSNP:28936697
complement(1618)-t, cdbSNP:200283718
complement(1663..1665)-, acadbSNP:267608184
complement(1663)-t, cdbSNP:200789791
complement(1862)-c, adbSNP:1037590
complement(1993)-g, adbSNP:113891712
complement(2205)-c, adbSNP:192370696
complement(2212..2213)-, cdbSNP:200648389
complement(2213)-g, adbSNP:1046321
complement(2245..2247)-, caadbSNP:77890179
complement(2246..2248)-, aacdbSNP:147182821
complement(2246)-, caadbSNP:80164093
complement(2265..2266)-, aadbSNP:147669127
complement(2266)-, ttdbSNP:3031851
complement(2332)-g, adbSNP:111424374
complement(2386)-t, adbSNP:1046326
complement(2446)-t, cdbSNP:148895599
complement(2477)-t, adbSNP:185900922
complement(2532)-g, cdbSNP:10068
complement(2575..2578)-, aagtdbSNP:75289895
complement(2575..2578)-, aagt, taag, aadbSNP:3833130
complement(2576..2579)-, taagdbSNP:35050283
complement(2576)-t, gdbSNP:200106618
complement(2577)-t, cdbSNP:201783255
complement(2578)-g, adbSNP:200996102
complement(2613)-g, adbSNP:1046335
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 $549.00 14
Title Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders .
Author Yik,W.Y., Steinberg,S.J., Moser,A.B., Moser,H.W. and Hacia,J.G.
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,M.S., Wanders,R.J., Waterham,H.R., Gutman,A., Nissenkorn,A. and Korman,S.H.
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,P.A., Dekker,C., Mandel,H., Topcu,M., Huemer,M., Von Schutz,M., Marquardt,T., Smeitink,J.A., Waterham,H.R. and Wanders,R.J.
Journal Hum. Mutat. 24 (2), 130-139 (2004)
Title Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder .
Author Gootjes,J., Schmohl,F., Waterham,H.R. and Wanders,R.J.
Journal Eur. J. Hum. Genet. 12 (2), 115-120 (2004)
Title Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli .
Author Schrader,M., Reuber,B.E., Morrell,J.C., Jimenez-Sanchez,G., Obie,C., Stroh,T.A., Valle,D., Schroer,T.A. and Gould,S.J.
Journal J. Biol. Chem. 273 (45), 29607-29614 (1998)
Title Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders .
Author Chang,C.C. and Gould,S.J.
Journal Am. J. Hum. Genet. 63 (5), 1294-1306 (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,R.J., 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,C.C., Lee,W.H., Moser,H., Valle,D. and Gould,S.J.
Journal Nat. Genet. 15 (4), 385-388 (1997)


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