AMELX (amelogenin X-linked)

2007-04-01  

Identity

HGNC
AMELX
LOCATION
Xp22.2
LOCUSID
265
ALIAS
AI1E,AIH1,ALGN,AMG,AMGL,AMGX

Other Information

Locus ID:

NCBI: 265
MIM: 300391
HGNC: 461
Ensembl: ENSG00000125363

Variants:

dbSNP: 265
ClinVar: 265
TCGA: ENSG00000125363
COSMIC: AMELX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125363ENST00000348912Q99217
ENSG00000125363ENST00000380712Q99217
ENSG00000125363ENST00000380714Q99217

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
118522352002Analysis of self-assembly and apatite binding properties of amelogenin proteins lacking the hydrophilic C-terminal.42
187810682008Enamel formation genes are associated with high caries experience in Turkish children.41
180429882008Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population.38
151116282004Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.33
187141422009Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.33
119228692002Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.29
190259922009Changes in the quaternary structure of amelogenin when adsorbed onto surfaces.24
199660412010MMP20 hemopexin domain mutation in amelogenesis imperfecta.24
209298602010Perturbed amelogenin secondary structure leads to uncontrolled aggregation in amelogenesis imperfecta mutant proteins.21

Citation

Dessen P

AMELX (amelogenin X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46794/amelx-(amelogenin-x-linked)