Sequence in raw or FASTA format:
AMELX amelogenin, X-linked [Homo sapiens (human)]
|Entrez Gene ID||265|
|Full Name||amelogenin, X-linked|
|Synonyms||AI1E, AIH1, ALGN, AMG, AMGL, AMGX|
|General protein information|
|Organism||Homo sapiens (human)|
|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].|
Amelogenesis imperfecta, hypoplastic/hypomaturation type, 301200 (3)
|Homo sapiens (human)||AMELX||NP_872621.1|
|Macaca mulatta (Rhesus monkey)||AMELX||NP_001091983.1|
|Canis lupus familiaris (dog)||AMELX||XP_003435493.1|
|Bos taurus (cattle)||AMELX||NP_001014984.1|
|Rattus norvegicus (Norway rat)||Amelx||NP_062027.1|
|GO:0001837||epithelial to mesenchymal transition||ISS|
|GO:0031214||biomineral tissue development||TAS|
|GO:0032967||positive regulation of collagen biosynthetic process||ISS|
|GO:0042475||odontogenesis of dentin-containing tooth||ISS|
|GO:0070172||positive regulation of tooth mineralization||TAS|
|GO:0005578||proteinaceous extracellular matrix||IDA|
|GO:0008083||growth factor activity||ISS|
|GO:0030345||structural constituent of tooth enamel||IDA|
|GO:0030345||structural constituent of tooth enamel||IMP|
|GO:0042802||identical protein binding||ISS|
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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