AMELX
Sign in to saveAlso known as AI1E, AIH1, ALGN, AMG, AMGL, AMGX, amelogenin, X-linked, amelogenin X-linked
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene. AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing. Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.
Gene data
AMELX- Name
- amelogenin X-linked
- Type
- protein-coding
- Chromosome
- X
- Position
- 11,293,413–11,300,761 (+)
- Aliases
- AI1E, AIH1, ALGN, AMG, AMGL, AMGX
- Ensembl
- ENSG00000125363
- RefSeq RNA
- NM_001142.2, NM_182680.1, NM_182681.1, XM_017029404.3, XM_054326823.1
- RefSeq protein
- NP_001133.1, NP_872621.1, NP_872622.1, XP_016884893.2, XP_054182798.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
amelogenin X-linked
- Symbol
- AMELX
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:11,293,413-11,300,761
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
6 sectionsContents
- Function
- Clinical significance
- See also
- References
- External links
- Further reading
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene. AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing. Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.
== Function ==
Excerpted from Wikipedia’s “AMELX” article, available under the CC BY-SA 4.0 licence.