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
- Aliases
- AI1E, AIH1, ALGN, AMG, AMGL, AMGX
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].
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
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 36056
- exact match
- identifiers.org/ncbigene/265
- genomic start
- 11311533
- genomic end
- 11318881
- cytogenetic location
- Xp22.2
via Wikidata · CC0
~1 min read
Article
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 ==