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AMELX amelogenin, X-linked [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001142 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_182680 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_182681 Homo sapiens amelogenin, X-linked (AMELX), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14

*Business Day

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Gene Symbol AMELX
Entrez Gene ID 265
Full Name amelogenin, X-linked
Synonyms AI1E, AIH1, ALGN, AMG, AMGL, AMGX
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.31-p22.1

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].
Disorder

MIM: 300391

Amelogenesis imperfecta, hypoplastic/hypomaturation type, 301200 (3)

mRNA Protein Product Sequence Price Select
NM_001142, 6715562 NP_001133, 4502071 amelogenin, X isoform isoform 1 precursor ORF Sequence $250.00
NM_182680, 33356555 NP_872621, 33356556 amelogenin, X isoform isoform 3 precursor ORF Sequence $250.00
NM_182681, 33356557 NP_872622, 33356558 amelogenin, X isoform isoform 2 precursor ORF Sequence $250.00
Homo sapiens (human)AMELXNP_872621.1
Macaca mulatta (Rhesus monkey)AMELXNP_001091983.1
Canis lupus familiaris (dog)AMELXXP_003435493.1
Bos taurus (cattle)AMELXNP_001014984.1
Rattus norvegicus (Norway rat)AmelxNP_062027.1
Process
IDNameEvidence
GO:0001649osteoblast differentiationISS
GO:0001837epithelial to mesenchymal transitionISS
GO:0002062chondrocyte differentiationISS
GO:0007155cell adhesionISS
GO:0007165signal transductionTAS
GO:0008283cell proliferationISS
GO:0031214biomineral tissue developmentTAS
GO:0032967positive regulation of collagen biosynthetic processISS
GO:0034505tooth mineralizationIMP
GO:0034505tooth mineralizationISS
GO:0042475odontogenesis of dentin-containing toothISS
GO:0050801ion homeostasisTAS
GO:0070166enamel mineralizationIMP
GO:0070172positive regulation of tooth mineralizationTAS
Component
IDNameEvidence
GO:0005578proteinaceous extracellular matrixIDA
GO:0009986cell surfaceISS
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0008083growth factor activityISS
GO:0030345structural constituent of tooth enamelIDA
GO:0030345structural constituent of tooth enamelIMP
GO:0042802identical protein bindingISS
GO:0046848hydroxyapatite bindingISS
GeneCards AMELX
UniProt Q99217
Vega OTTHUMG00000021130
MIM 300391
Ensembl ENSG00000125363
HGNC 461
HPRD 02313

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the AMELX gene?

The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral-containing crystals. These microscopic crystals are arranged in organized bundles that give enamel its strength and durability. Although the exact function of amelogenin is not well understood, it appears to separate and support the ribbon-like crystals as they grow. Amelogenin is removed from the developing crystals when it is no longer needed, leaving mature enamel that contains very little protein.

Studies suggest that small amounts of amelogenin may also be present in tissues other than developing tooth enamel. For example, amelogenin has been found in certain bone, bone marrow, and brain cells. The function of amelogenin in these tissues is unknown.

One copy of the amelogenin gene is located on each of the sex chromosomes (the X and Y chromosomes). The AMELX gene, which is located on the X chromosome, makes almost all of the body's amelogenin. The copy of the amelogenin gene on the Y chromosome, AMELY, makes very little amelogenin and is not needed for enamel formation.

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