Basic Information

Symbol
AMELX
RNA class
mRNA
Alias
Amelogenin X-Linked AMG Amelogenin (X Chromosome, Amelogenesis Imperfecta 1) Amelogenin, X Isoform AIH1 AMGX Amelogenin (Amelogenesis Imperfecta 1, X-Linked) Amelogenesis Imperfecta 1 AI1E ALGN AMGL
Location (GRCh38)
X:11293413-11300761
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Tissue/body fluid identification Individual identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001142.2
Sequence length
793.0 nt
GC content
0.5246

Secondary Structure

Generated by RNAfold
Minimum free energy (MFE) structure:
Secondary structure that contributes a minimum of free energy.
Ensemble properties:
Thermodynamic properties of the Boltzmann ensemble.
Minimum free energy
-193.40 kcal/mol
Thermodynamic ensemble
Free energy: -210.47 kcal/mol
Frequency: 0.0000
Diversity: 142.05
MFE Structure Visualization
Structure Prediction
MFE Structure Prediction
...((((.....))))..(((((((.....)))))))....((((....)))).....((((......)))).....((.((((((((.(.((((((((((((((((((....)).((((((.((((((.(((...((((((((((((((...........))))).).))))))))......))).))))))..)).))))..(((...((((.((.......)).)))).)))(((((((((..(((((((................(((((((....))))))).....((.((((...(((((((.....((((((......))))))...)))..))))...)))))).....(((........))).......((((...........((......))...........))))...............((..(((((........((....)))))))..))....((.......))...)))))))....)))))))))........((((...)))).((....))....((((........(((((((.......((((.((((((....((((.((......)).))))((((((.(.((....))...).)))))))))))).)).)).........(((.....)))..)))))))........))))))))))))))))............(((..((..((((((..(((.....)))...)))))).))))).(((.....))).......)))).))))))))).))..........
Thermodynamic Ensemble Prediction
...((,,.....,|||,{(((((((.....)))))))....((({....}))).....{({{......})))}}},,|(.(((((({{{(.((((((((((((((((((....)}.(((((({((((((.(((...{(((((((((((((.........,.))))).).))))))}}......))).)))))}..)),))))..(((...((((.((.......)).)))).)))(((((((((..(((((({................(((((((....))))))).....{{.((((...(((((((.....((((((......))))))...)))..))))...))))}}.....({(.,......})}..|||.,{((,...........{,...................)}}}...........||..{{..,||,{|.......{,....|,||||,..}}.,},},,......},...}))))))....)))))))))........((((...)))).{{....)}....{(((.......,(((((((...,,.,(,({.((((((..,{((((.((......)).))))||((((.,.{{....}}...).)))))})))))).}).))........|{{,...},)},,.)))))))|.......)))})))))))))))).................{,..((((((..,{{.....}},...)))))).}},||.{((.....))).......)))).))))))))).)}..........

Transcripts

ID Sequence Length GC content
NM_001142.2 NCBI
AAAGGAUCAAGCAUCCCUGAGUUUCAAACAGAAACUUGCACUGAAUACA… 793 nt 0.5246
NM_182680.1 NCBI
AAAGGAUCAAGCAUCCCUGAGUUUCAAACAGAAACUUGCACUGAAUACA… 835 nt 0.5186
NM_182681.1 NCBI
AAAGGAUCAAGCAUCCCUGAGUUUCAAACAGAAACUUGCACUGAAUACA… 745 nt 0.5262
Summary

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenin s 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]

Forensic Context

A study in humans demonstrated the feasibility of a parallel sequencing approach for simultaneous individual and tissue identification from a single sample, which successfully included the AMELX/AMELY system for sex determination [Zubakov et al. DOI:10.1016/j.fsigen.2015.04.002]. This system was sequenced alongside nine autosomal STRs and twelve tissue-specific mRNA markers using the Ion Torrent PGM, with STR results showing 100% concordance with conventional capillary electrophoresis profiling and unambiguous tissue identification achieved for all tested samples.