Bioinformatics Database
AMBN: Ameloblastin
Cellular Process
Enamel and Dentin formation
Gene Name
AMBN: Ameloblastin
Gene ID
258
Gene Sequence
General Description
This gene encodes the nonamelogenin enamel matrix protein ameloblastin.
Alternative titles; symbols
Chromosome
Chromosome 4
Cytogenetic location
4q13.3
Encoded Protein
Ameloblastin precursor
Function of the protein in oral and tooth development
This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect.
Dental and Oral Diseases
Amelogenesis imperfecta, type IF
(OMIM ID: 601259)
Protein Sequence
>NP_057603.1 ameloblastin precursor [Homo sapiens]
MSASKIPLFKMKDLILILCLLEMSFAVPFFPQQSGTPGMASLSLETMRQLGSLQRLNTLSQYSRYGFGKS
FNSLWMHGLLPPHSSLPWMRPREHETQQYEYSLPVHPPPLPSQPSLKPQQPGLKPFLQSAAATTNQATAL
KEALQPPIHLGHLPLQEGELPLVQQQVAPSDKPPKPELPGVDFADPQGPSLPGMDFPDPQGPSLPGLDFA
DPQGSTIFQIARLISHGPMPQNKQSPLYPGMLYVPFGANQLNAPARLGIMSSEEVAGGREDPMAYGAMFP
GFGGMRPGFEGMPHNPAMGGDFTLEFDSPVAATKGPENEEGGAQGSPMPEANPDNLENPAFLTELEPAPH
AGLLALPKDDIPGLPRSPSGKMKGLPSVTPAAADPLMTPELADVYRTYDADMTTSVDFQEEATMDTTMAP
NSLQTSMPGNKAQEPEMMHDAWHFQEP
Mutations
2,347-BP DEL:
Poulter et al. (2014) described a homozygous 2,347-bp deletion in the AMBN gene, encompassing all 237 bp of exon 6 and 2,110 bp of flanking sequence on either side of the exon. The deletion was predicted to create an in-frame deletion of 79 amino acids (Tyr99_Glu177del), shortening the protein from 447 to 368 amino acids.
Splicing Mutation:
Prasad et al. (2016) identified 2 sisters with hypoplastic amelogenesis imperfecta who had a homozygous splice acceptor mutation (c.532-1G-C) in the AMBN gene.
Related Literature
Poulter et al., (2014): https://doi.org/10.1093/hmg/ddu247
Prasad et al.,(2016): https://doi.org/10.1136/jmedgenet-2015-103302
