AMELX

GENE INFORMATION

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Gene name

AMELX (HGNC Symbol)

Synonyms

AIH1, AMG

Description

amelogenin, X-linked (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

p22.2

Chromosome location (bp)

11311533 - 11318881

Ensembl

ENSG00000125363 (version 73.37)

Entrez gene

265

UniProt

Q99217 (UniProt - Evidence at protein level)

neXtProt

NX_Q99217

Antibodypedia

AMELX antibodies
 

PROTEIN VIEW

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AMELX-001
 
AMELX-002
 
AMELX-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMELX-001 ENSP00000370090
ENST00000380714
Q99217
Show all »
Show » 191 21.6 Yes 0
AMELX-002 ENSP00000370088
ENST00000380712
Q99217
Show all »
Show » 205 23.1 Yes 0
AMELX-201 ENSP00000335312
ENST00000348912
Q99217
Show all »
Show » Show » 175 19.8 Yes 0