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amelogenin, X isoform (AMELX, AMG, AMGX)
Function:
- role in biomineralization
- seems to regulate formation of crystallites during the secretory stage of tooth enamel development
- role in the structural organization & mineralization of developing enamel (putative)
- amelogenin is the predominant protein in developing dental enamel
Structure: belongs to the amelogenin family
Compartment:
- secreted, extracellular space, extracellular matrix
Alternative splicing: named isoforms=3; additional isoforms seem to exist
Expression:
- transiently but abundantly expressed by ameloblasts during tooth development
Pathology:
- defects in AMELX are the cause of amelogenesis imperfecta hypoplastic type 1
Genetics: encoded on the X chromosome
General
amelogenin
Properties
SIZE: entity length = 191 aa
MW = 22 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-16}
Ser phosphorylation site {S32}
Database Correlations
OMIM correlations
MORBIDMAP 300391
UniProt Q99217
Pfam PF02948
Entrez Gene 265
Kegg hsa:265
References
- OMIM :accession 301200
- Entrez Gene :accession 265
- UniProt :accession Q99217