ENAM - enamelin Gene

Homo sapiens

Also known as ADAI; AI1C; AIH2

Gene ID: 10117 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04368	ENAM Human Pre-designed siRNA Set A	Pre-designed Sets	/	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