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Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25376 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu25376C Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. Customized vector On-demand $209.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_182680.1, 33356555
Length 618 bp
Structure linear
Update Date 18-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.
Product amelogenin, X isoform isoform 3 precursor
Comment

Summary: This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (3) encodes the longest isoform (3) of this protein.

RefSeq NP_872621.1
CDS 69..686
Misc Feature(1)42..44
Misc Feature(2)150..683
Exon (1)1..56
Gene:AMELX
Gene Synonym:AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Exon (2)57..122
Gene:AMELX
Gene Synonym:AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Exon (3)123..170
Gene:AMELX
Gene Synonym:AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Exon (4)171..212
Gene:AMELX
Gene Synonym:AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Exon (5)213..254
Gene:AMELX
Gene Synonym:AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Exon (6)255..680
Gene:AMELX
Gene Synonym:AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Exon (7)681..835
Gene:AMELX
Gene Synonym:AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Translation MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYENSHSQAINVDRTALVLTPLKWYQSIR PPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQ HSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQP LPPMLPDLTLEAWPSTDKTKREEVD
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Position Chain Variation Link
70+c, tdbSNP:104894737
79+c, gdbSNP:104894738
82..90+, ttttatttgdbSNP:387906488
146+dbSNP:
146+g, tdbSNP:145299463
220+dbSNP:
220+c, tdbSNP:104894733
223+, cdbSNP:387906487
239+c, gdbSNP:431825176
241+a, gdbSNP:431825177
242+a, cdbSNP:431825178
253+c, tdbSNP:144955572
254+a, gdbSNP:149068672
259+dbSNP:
259+c, tdbSNP:374272157
272+c, tdbSNP:368149347
276+a, cdbSNP:104894736
312+a, gdbSNP:371530769
329+c, tdbSNP:2106416
334+c, tdbSNP:148259441
335+a, g, tdbSNP:142884100
390+a, gdbSNP:373800800
416+c, tdbSNP:200842202
417+a, gdbSNP:367556910
476+c, tdbSNP:147013110
479+c, tdbSNP:200101076
488+, cdbSNP:387906491
541+, cdbSNP:387906489
546+g, tdbSNP:138249749
564+c, tdbSNP:6639060
567+a, cdbSNP:372332800
569+a, gdbSNP:201127558
584+a, gdbSNP:143860203
609+, cdbSNP:387906490
617+c, tdbSNP:150631365
639+g, tdbSNP:104894734
649+a, cdbSNP:139757230
700+dbSNP:
700+a, gdbSNP:372488657
724+a, gdbSNP:200715488
725+c, tdbSNP:369247345
740+a, cdbSNP:373589740
826+c, tdbSNP:188715671
Gene SymbolAMELX
Gene SynonymAI1E; AIH1; ALGN; AMG; AMGL; AMGX
ChromosomeX
Locus MapXp22.31-p22.1
Title Genes expressed in dental enamel development are associated with molar-incisor hypomineralization .
Author Jeremias F, Koruyucu M, Kuchler EC, Bayram M, Tuna EB, Deeley K, Pierri RA, Souza JF, Fragelli CM, Paschoal MA, Gencay K, Seymen F, Caminaga RM, dos Santos-Pinto L and Vieira AR.
Journal Arch. Oral Biol. 58 (10), 1434-1442 (2013)
Title Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization .
Author Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM and Pyatt RE.
Journal Forensic Sci Int Genet 7 (5), 475-481 (2013)
Title Allelic frequency distributions of 21 non-combined DNA index system .
Author Wang HD, Shen CM, Liu WJ, Zhang YD, Yang G, Yan JW, Qin HX and Zhu BF.
Journal J Zhejiang Univ Sci B 14 (6), 533-540 (2013)
Title Common SNPs of AmelogeninX (AMELX) and dental caries susceptibility .
Author Gasse B, Grabar S, Lafont AG, Quinquis L, Opsahl Vital S, Davit-Beal T, Moulis E, Chabadel O, Hennequin M, Courson F, Droz D, Vaysse F, Laboux O, Tassery H, Al-Hashimi N, Boillot A, Carel JC, Treluyer JM, Jeanpierre M, Beldjord C, Sire JY and Chaussain C.
Journal J. Dent. Res. 92 (5), 418-424 (2013)
Title Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6 .
Author Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, Milkovich RN, Estrella NM, Yildirim M, Bayram M, Chen CF and Simmer JP.
Journal PLoS ONE 7 (12), E52052 (2012)
Title Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1) .
Author Aldred MJ, Crawford PJ, Roberts E and Thomas NS.
Journal Hum. Genet. 90 (4), 413-416 (1992)
Title The human enamel protein gene amelogenin is expressed from both the .
Author Salido EC, Yen PH, Koprivnikar K, Yu LC and Shapiro LJ.
Journal Am. J. Hum. Genet. 50 (2), 303-316 (1992)
Title A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1) .
Author Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren
Journal Genomics 10 (4), 971-975 (1991)
Title Human developing enamel proteins exhibit a sex-linked dimorphism .
Author Fincham AG, Bessem CC, Lau EC, Pavlova Z, Shuler C, Slavkin HC and Snead ML.
Journal Calcif. Tissue Int. 48 (4), 288-290 (1991)
Title A human X-Y homologous region encodes 'amelogenin' .
Author Nakahori Y, Takenaka O and Nakagome Y.
Journal Genomics 9 (2), 264-269 (1991)

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