Bioinformatics Database
AMTN: Amelotin
3D Protein Structure Viewer
Cellular Process
Enamel formation
Gene Name
AMTN: Amelotin
Gene ID
401138
Gene Sequence
General Description
Amelotin is expressed in the maturation-stage of ameloblasts.
Alternative titles; symbols
Chromosome
Chromosome 4
Cytogenetic location
4q13.3
Encoded Protein
Amelotin isoform 1 precursor
Function of the protein in oral and tooth development
Amelotin is expressed in the maturation-stage of ameloblasts.
Dental and Oral Diseases
Amelogenesis imperfecta, type IIIB
(OMIM ID: 610912)
Protein Sequence
>NP_997722.1 AMTN [organism=Homo sapiens] [GeneID=401138] [isoform=1 precursor]
MRSTILLFCLLGSTRSLPQLKPALGLPPTKLAPDQGTLPNQQQSNQVFPSLSLIPLTQMLTLGPDLHLLN
PAAGMTPGTQTHPLTLGGLNVQQQLHPHVLPIFVTQLGAQGTILSSEELPQIFTSLIIHSLFPGGILPTS
QAGANPDVQDGSLPAGGAGVNPATQGTPAGRLPTPSGTDDDFAVTTPAGIQRSTHAIEEATTESANGIQ
Mutations
8,678 bp deletion,
4-bp insertion ( Smith et al. (2016))
Related Literature
Smith et al., (2016): https://doi.org/10.1093/hmg/ddw203
