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Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005029 Homo sapiens paired-like homeodomain 3 (PITX3), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_005029.3, 24234713
Length 1407 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.
Product pituitary homeobox 3
Comment

Summary: This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008].

RefSeq NP_005020.1
CDS 155..1063
Misc Feature(1)89..91
Misc Feature(2)341..517
Misc Feature(3)341..517
Misc Feature(4)order(341..355,359..361,410..412,428..430,467..469,
Misc Feature(5)order(347..349,356..358,476..478,485..490,497..499)
Misc Feature(6)923..979
Misc Feature(7)938..979
Misc Feature(8)956..970
Exon (1)1..142
Gene:PITX3
Gene Synonym:CTPP4; PTX3
Exon (2)143..272
Gene:PITX3
Gene Synonym:CTPP4; PTX3
Exon (3)273..475
Gene:PITX3
Gene Synonym:CTPP4; PTX3
Exon (4)476..1388
Gene:PITX3
Gene Synonym:CTPP4; PTX3
Translation MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKK KQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKR ERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVG PLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGLAPAAVSSGAVSCPYA SAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVER PV
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Position Chain Variation Link
complement(88)-dbSNP:
complement(88)-g, adbSNP:71471239
complement(192)-g, adbSNP:104894175
complement(238)-g, cdbSNP:146761373
complement(300)-dbSNP:
complement(300)-g, adbSNP:199850552
complement(301)-g, adbSNP:143137940
complement(427)-t, cdbSNP:149028046
complement(439)-t, cdbSNP:2281983
complement(503)-g, adbSNP:111880155
complement(601)-g, cdbSNP:149902448
complement(857)-t, cdbSNP:148445461
complement(1104)-c, adbSNP:200814876
complement(1108)-t, gdbSNP:201384484
Gene SymbolPITX3
Gene SynonymCTPP4; PTX3
Chromosome10
Locus Map10q24.32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005029 Homo sapiens paired-like homeodomain 3 (PITX3), mRNA. On-demand TBD TBD
Title Meta-analysis of association between PITX3 gene polymorphism and Parkinson's disease .
Author Tang,L., Zhao,S., Wang,M., Sheth,A., Zhao,Z., Chen,L., Fan,X. and Chen,L.
Journal J. Neurol. Sci. 317 (1-2), 80-86 (2012)
Title Decreased NURR1 and PITX3 gene expression in Chinese patients with Parkinson's disease .
Author Liu,H., Wei,L., Tao,Q., Deng,H., Ming,M., Xu,P. and Le,W.
Journal Eur. J. Neurol. 19 (6), 870-875 (2012)
Title Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid .
Author Derwinska,K., Mierzewska,H., Goszczanska,A., Szczepanik,E., Xia,Z., Kusmierska,K., Tryfon,J., Kutkowska-Kazmierczak,A., Bocian,E., Mazurczak,T., Obersztyn,E. and Stankiewicz,P.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (2), 236-242 (2012)
Title A novel synonymous SNP in PITX3 is associated with Parkinson's disease in Chinese population .
Author Gui,Y., Zhao,Y., Liu,H., Fu,J., Xu,Z. and Hu,X.
Journal Swiss Med Wkly 142, W13521 (2012)
Title Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation .
Author Chograni,M., Chaabouni,M., Maazoul,F., Bouzid,H., Kraiem,A. and Chaabouni,H.B.
Journal BMC Ophthalmol 11, 35 (2011)
Title Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype .
Author Martinat,C., Bacci,J.J., Leete,T., Kim,J., Vanti,W.B., Newman,A.H., Cha,J.H., Gether,U., Wang,H. and Abeliovich,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 103 (8), 2874-2879 (2006)
Title Posterior polar cataract: genetic analysis of a large family .
Author Finzi,S., Li,Y., Mitchell,T.N., Farr,A., Maumenee,I.H., Sallum,J.M. and Sundin,O.
Journal Ophthalmic Genet. 26 (3), 125-130 (2005)
Title Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4) .
Author Berry,V., Yang,Z., Addison,P.K., Francis,P.J., Ionides,A., Karan,G., Jiang,L., Lin,W., Hu,J., Yang,R., Moore,A., Zhang,K. and Bhattacharya,S.S.
Journal J. Med. Genet. 41 (8), E109 (2004)
Title A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD .
Author Semina,E.V., Ferrell,R.E., Mintz-Hittner,H.A., Bitoun,P., Alward,W.L., Reiter,R.S., Funkhauser,C., Daack-Hirsch,S. and Murray,J.C.
Journal Nat. Genet. 19 (2), 167-170 (1998)
Title Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations .
Author Hittner,H.M., Kretzer,F.L., Antoszyk,J.H., Ferrell,R.E. and Mehta,R.S.
Journal Am. J. Ophthalmol. 93 (1), 57-70 (1982)


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