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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_182680 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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RefSeq Version NM_182680.1, 33356555
Length 835 bp
Structure linear
Update Date 18-APR-2013
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)117..>317
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
146+dbSNP:
146+g, tdbSNP:145299463
220+dbSNP:
220+c, tdbSNP:104894733
253+c, tdbSNP:144955572
254+a, gdbSNP:149068672
276+dbSNP:
276+a, cdbSNP:104894736
329+c, tdbSNP:2106416
334+c, tdbSNP:148259441
335+a, g, tdbSNP:142884100
416+c, tdbSNP:200842202
476+c, tdbSNP:147013110
479+c, tdbSNP:200101076
546+g, tdbSNP:138249749
564+c, tdbSNP:6639060
569+a, gdbSNP:201127558
584+a, gdbSNP:143860203
617+c, tdbSNP:150631365
639+g, tdbSNP:104894734
649+a, cdbSNP:139757230
724+dbSNP:
724+a, gdbSNP:200715488
826+c, tdbSNP:188715671
Gene SymbolAMELX
Gene SynonymAI1E; AIH1; ALGN; AMG; AMGL; AMGX
ChromosomeX
Locus MapXp22.31-p22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001142 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 1, mRNA. On-demand $399.00 14
NM_182680 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. On-demand $399.00 14
NM_182681 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 2, mRNA. On-demand $399.00 14
Title Human amelogenin up-regulates osteogenic gene expression in human bone marrow stroma cells .
Author Jingchao,H., Rong,S., Zhongchen,S. and Lan,C.
Journal Biochem. Biophys. Res. Commun. 408 (3), 437-441 (2011)
Title Association between AMELX polymorphisms and dental caries in Koreans .
Author Kang,S.W., Yoon,I., Lee,H.W. and Cho,J.
Journal Oral Dis 17 (4), 399-406 (2011)
Title Altered self-assembly and apatite binding of amelogenin induced by N-terminal proline mutation .
Author Zhu,L., Uskokovic,V., Le,T., Denbesten,P., Huang,Y., Habelitz,S. and Li,W.
Journal Arch. Oral Biol. 56 (4), 331-336 (2011)
Title Perturbed amelogenin secondary structure leads to uncontrolled aggregation in amelogenesis imperfecta mutant proteins .
Author Lakshminarayanan,R., Bromley,K.M., Lei,Y.P., Snead,M.L. and Moradian-Oldak,J.
Journal J. Biol. Chem. 285 (52), 40593-40603 (2010)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1) .
Author Aldred,M.J., Crawford,P.J., Roberts,E. and Thomas,N.S.
Journal Hum. Genet. 90 (4), 413-416 (1992)
Title The human enamel protein gene amelogenin is expressed from both the .
Author Salido,E.C., Yen,P.H., Koprivnikar,K., Yu,L.C. and Shapiro,L.J.
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,U. and Pettersson,U.
Journal Genomics 10 (4), 971-975 (1991)
Title Human developing enamel proteins exhibit a sex-linked dimorphism .
Author Fincham,A.G., Bessem,C.C., Lau,E.C., Pavlova,Z., Shuler,C., Slavkin,H.C. and Snead,M.L.
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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