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Gene: AMELX (amelogenin X-linked) Homo sapiens
Symbol: AMELX
Name: amelogenin X-linked
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AI1E; AIH1; ALGN; amelogenesis imperfecta 1; amelogenin (amelogenesis imperfecta 1, X-linked); amelogenin (X chromosome, amelogenesis imperfecta 1); amelogenin, X isoform; amelogenin, X-linked; AMG; AMGL; AMGX
Mus musculus (house mouse) : Amelx (amelogenin, X-linked)  MGI  Alliance
Rattus norvegicus (Norway rat) : Amelx (amelogenin, X-linked)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Amelx (amelogenin X-linked)
Pan paniscus (bonobo/pygmy chimpanzee) : AMELX (amelogenin, X-linked)
Canis lupus familiaris (dog) : AMELX (amelogenin X-linked)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Amelx (amelogenin X-linked)
Sus scrofa (pig) : AMELX (amelogenin X-linked)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X11,293,413 - 11,304,149 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,311,533 - 11,318,881 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,221,454 - 11,228,802 (+)NCBINCBI36hg18NCBI36
CeleraX15,438,990 - 15,446,338 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX9,091,155 - 9,098,355 (+)NCBIHuRef
CHM1_1X11,342,001 - 11,349,349 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on AMELX
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735379
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.