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Gene: AMELX (amelogenin X-linked) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on AMELX
Alliance Gene
NCBI 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



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