• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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

*Business Day

Related Services

RefSeq Version NM_005029.3, 24234713
Length 1407 bp
Structure linear
Update Date 03-MAY-2014
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:ASMD; CTPP4; CTRCT11; PTX3
Exon (2)143..272
Gene:PITX3
Gene Synonym:ASMD; CTPP4; CTRCT11; PTX3
Exon (3)273..475
Gene:PITX3
Gene Synonym:ASMD; CTPP4; CTRCT11; PTX3
Exon (4)476..1388
Gene:PITX3
Gene Synonym:ASMD; CTPP4; CTRCT11; PTX3
Translation MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKK KQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKR ERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVG PLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGLAPAAVSSGAVSCPYA SAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVER PV
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
complement(88)-dbSNP:
complement(88)-g, adbSNP:71471239
complement(167)-g, adbSNP:370385515
complement(189)-t, cdbSNP:376259390
192+a, gdbSNP:104894175
complement(196)-g, adbSNP:367562631
complement(238)-g, cdbSNP:146761373
complement(289)-dbSNP:
complement(289)-g, cdbSNP:370923238
complement(296)-g, adbSNP:376473345
complement(300)-g, adbSNP:199850552
complement(301)-g, adbSNP:143137940
complement(427)-t, cdbSNP:149028046
439+c, tdbSNP:2281983
complement(503)-g, adbSNP:111880155
complement(585)-t, cdbSNP:369108819
complement(592)-t, cdbSNP:374824741
complement(601)-g, cdbSNP:149902448
complement(641)-t, gdbSNP:371735170
complement(857)-t, cdbSNP:148445461
complement(924)-g, cdbSNP:377253303
complement(986)-t, cdbSNP:372354410
complement(1104)-c, adbSNP:200814876
complement(1108)-t, gdbSNP:201384484
complement(1225)-g, adbSNP:374611278
complement(1330)-g, adbSNP:374536158
Gene SymbolPITX3
Gene SynonymASMD; CTPP4; CTRCT11; 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 Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration .
Author Jamrozik Z, Berdynski M, Zekanowski C, Baranczyk-Kuzma A, Slawek J, Kuzma-Kozakiewicz M, Maruszak A and Kwiecinski H.
Journal Ann. Clin. Lab. Sci. 43 (2), 151-153 (2013)
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 Posterior polar cataract: genetic analysis of a large family .
Author Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM 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 PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K and Bhattacharya SS.
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 EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S and Murray JC.
Journal Nat. Genet. 19 (2), 167-170 (1998)
Title Anophthalmia/Microphthalmia Overview .
Author Bardakjian,T., Weiss,A. and Schneider,A.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 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)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.