ENAM - enamelin Gene

Also Known as ADAI; AI1C; AIH2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10117

About ENAM

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:70,628,744-70,646,824 (from NCBI)

This gene has 2 transcripts (splice variants), 97 orthologues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 2.0), heart (RPKM 1.3) and 5 other tissues.

Summary

Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]

ENAM Products (2)

mRNA	Protein	Name
NM_001368133.1	NP_001355062.1	enamelin isoform 2
NM_031889.3	NP_114095.2	enamelin isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25789606	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ENAM Protein Structure

Enamelin

0
200
400
600
800
1000
1142 a.a.

Protein Preferred Names	Protein Names
enamelin	amelogenesis imperfecta 2, hypocalcification (autosomal dominant)

Related Diseases

Diseases	Alias
Amelogenesis Imperfecta, Type Ib	AI1B Aih2 Amelogenesis Imperfecta Type 1b Amelogenesis Imperfecta Type Ib Hereditary Localized Enamel Hypoplasia Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant Enamel Hypoplasia, Hereditary Localized Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta Amelogenesis Imperfecta 1b Amelogenesis Imperfecta Hypoplastic 2 Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant
Amelogenesis Imperfecta, Type Ic	Amelogenesis Imperfecta Type 1c AI1C Amelogenesis Imperfecta Type Ic Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive Amelogenesis Imperfecta, Hypoplastic, With Or Without Open-Bite Malocclusion, Autosomal Recessive Autosomal Recessive Amelogenesis Imperfecta Hypoplastic With Or Without Openbite Malocclusion Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type Amelogenesis Imperfecta 1c Amelogenesis Imperfecta Hypoplastic With Or Without Openbite Malocclusion Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Hypoplastic Amelogenesis Imperfecta	Amelogenesis Imperfecta Type 1 Amelogenesis Imperfecta, Hypoplastic Type Amelogenesis Imperfecta Local Hypoplastic Form
Amelogenesis Imperfecta, Type Iiia	Ai3 Adhcai Amelogenesis Imperfecta Type 3 AI3A Amelogenesis Imperfecta, Type Iii Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant Amelogenesis Imperfecta Type 3a Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iii Hypocalcified Amelogenesis Imperfecta Amelogenesis Imperfecta, Type 3 Amelogenesis Imperfecta, Hypomineralization Type Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type Amelogenesis Imperfecta 3a Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Amelogenesis Imperfecta Local Hypoplastic	Local Hypoplastic Amelogenesis Imperfecta
Dental Caries	Dental Caries Extending Into Pulp Dental Caries Of Smooth Surface Dental Caries Pit And Fissure Smooth Surface Dental Caries Dental Decay Carious Teeth Dental Cavity Saprodontia Teeth Decayed Tooth Caries Tooth Decay
Hypercementosis	Cementation Hyperplasia
Trichodentoosseous Syndrome	Tricho-Dento-Osseous Syndrome Tdo Syndrome Trichodontoosseous Syndrome TDO Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Enamel Caries	Primary Dental Caries Dental Caries Limited To Enamel Simple Dental Cavity
Teeth Hard Tissue Disease
Dental Fluorosis	Mottled Teeth Intrinsic Enamel Discolouration Of Fluorosis Mottling Of Enamel Fluorosis, Dental Dental Fluorosis, Acquired
Dental Pulp Calcification	Pulp Calcification Pulp Calcifications Pulpal Calcifications Dental Pulp Stone
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis Imperfecta Hypomaturation Type 2a2 AI2A2 Amelogenesis Imperfecta, Type Iia2 Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2 Amelogenesis Imperfecta Hypomaturation Type Iia2 Amelogenesis Imperfecta Type Iia2 Amelogenesis Imperfecta, Hypomaturation Type, 2a2 Amelogenesis Imperfecta 2 Hypocalcification Type
Dental Anomalies And Short Stature	Brachyolmia-Amelogenesis Imperfecta Syndrome Platyspondyly With Amelogenesis Imperfecta DASS Verloes Bourguignon Syndrome Verloes-Bourguignon Syndrome Vbs Sthag6 Tooth Agenesis, Selective, 6 Tooth Agenesis, Selective, 6, Formerly Sthag6, Formerly Selective Tooth Agenesis 5 Amelogenesis Imperfecta And Platyspondyly Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly Platyspondyly-Amelogenesis Imperfecta Syndrome
Jalili Syndrome	Cone-Rod Dystrophy And Amelogenesis Imperfecta Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome Cone-Rod Dystrophy Amelogenesis Imperfecta Cone-Rod Dystrophy With Amelogenesis Imperfecta JALIS Cone Rod Dystrophy Amelogenesis Imperfecta
Dentine Erosion
Craniopharyngioma	Neoplasm Of Rathke'S Pouch Adamantinomatous Tumor Craniopharyngeal Duct Tumor Dysodontogenic Epithelial Tumor Rathke'S Pouch Tumor
Amelogenesis Imperfecta, Type Iv	AI4 Aihht Amelogenesis Imperfecta Type 4 Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism Amelogenesis Imperfecta 4 Ait Amelogenesis Imperfecta 2 Hypocalcification Type Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iv Amelogenesis Imperfecta With Taurodontism
Tooth Erosion	Generalized Erosion Localized Erosion Generalized Erosions Erosion, Localized
Dentin Dysplasia	Dentinal Dysplasia Dd Dysplasia, Dentin Shell Teeth
Papillary Craniopharyngioma	Craniopharyngioma, Papillary Papillary Rathke'S Pouch Tumor Craniopharyngioma Papillary
Adamantinous Craniopharyngioma	Adamantinous Rathke'S Pouch Tumor Craniopharyngioma, Adamantinomatous Adamantinomatous Craniopharyngioma
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Vexas Syndrome	VEXAS Vexas Syndrome, Somatic Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic
Enamel Erosion
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Immunodeficiency 10	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 Combined Immunodeficiency Due To Stim1 Deficiency IMD10 Stim1 Deficiency Cid Due To Stim1 Deficiency Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2 Immunodeficiency, Type 10
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04368	ENAM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19597	Enam Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26093	Enam Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ENAM	VGNC	VGNC:40358
Bos taurus	ENAM	VGNC	VGNC:28488
Mus musculus	ENAM	MGD	MGI:1333772
Macaca mulatta	ENAM	VGNC	VGNC:72216
Rattus norvegicus	ENAM	RGD	RGD:1306796
Felis catus	ENAM	VGNC	VGNC:61856
Others	ENAM	NCBI