ENAM (enamelin)

2014-11-01  

Identity

HGNC
LOCATION
4q13.3
LOCUSID
ALIAS
ADAI,AI1C,AIH2

Other Information

Locus ID:

NCBI: 10117
MIM: 606585
HGNC: 3344
Ensembl: ENSG00000132464

Variants:

dbSNP: 10117
ClinVar: 10117
TCGA: ENSG00000132464
COSMIC: ENAM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132464ENST00000396073Q9NRM1
ENSG00000132464ENST00000472597A0A3B3ITB9

Expression (GTEx)

0
1
2
3
4

References

Pubmed IDYearTitleCitations
146568952003Enamelin and autosomal-dominant amelogenesis imperfecta.48
187810682008Enamel formation genes are associated with high caries experience in Turkish children.41
119787662002A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).36
146846882003Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.34
187141422009Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.33
124070862002Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary.28
237905032013Genes expressed in dental enamel development are associated with molar-incisor hypomineralization.21
171257282007Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.15
173165512007Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.14
193294622009Candidate gene strategy reveals ENAM mutations.14

Citation

Dessen P

ENAM (enamelin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62829/enam