AMELX - amelogenin X-linked Gene

Homo sapiens

Also known as AMG; AI1E; AIH1; ALGN; AMGL; AMGX

Gene ID: 265 | Gene type: protein coding

About AMELX

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:11,293,413-11,309,588 (from NCBI)

This gene has 3 transcripts (splice variants), 108 orthologues, 1 paralogue and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

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

AMELX Products(3)

mRNA	Protein	Name
NM_001142.2	NP_001133.1	amelogenin, X isoform isoform 1 precursor
NM_182680.1	NP_872621.1	amelogenin, X isoform isoform 3
NM_182681.1	NP_872622.1	amelogenin, X isoform isoform 2

AMELX Protein Structure

Amelogenin

0
100
191 a.a.

Protein Preferred Names

Protein Names

amelogenin, X isoform

amelogenin (X chromosome, amelogenesis imperfecta 1)

Recombinant AMELX Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71627	AMELX Protein, Human (His-SUMO)	Q99217 (17M-191D)	≥95%

Related Diseases

Diseases

Alias

Amelogenesis Imperfecta, Type Ie

Aih1	Amelogenesis Imperfecta Type 1e
AI1E	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth	Enamel Hypoplasia, X-Linked
Amelogenesis Imperfecta Type Ie	Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1
Enamel Hypoplasia X-Linked	Amelogenesis Imperfecta, X-Linked 1
Amelogenesis Imperfecta, Type 1e	Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth
X-Linked Amelogenesis Imperfecta 1	X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1
X-Linked Enamel Hypoplasia	Amelogenesis Imperfecta X-Linked 1
Amelogenesis Imperfecta 1e	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e
Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth	Xai
X-Linked Amelogenesis Imperfecta	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Amelogenesis Imperfecta Hypomaturation Type

Aih	Hypomaturation Amelogenesis Imperfecta
Amelogenesis Imperfecta Type 2

Enamel Caries

Primary Dental Caries	Dental Caries Limited To Enamel
Simple Dental Cavity

Freemartinism

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

Dental Fluorosis

Mottled Teeth	Intrinsic Enamel Discolouration Of Fluorosis
Mottling Of Enamel	Fluorosis, Dental
Dental Fluorosis, Acquired

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

Teeth Hard Tissue Disease

Ameloblastoma

Adenoameloblastoma

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

Tooth Erosion

Generalized Erosion	Localized Erosion
Generalized Erosions	Erosion, Localized

Enamel Erosion

Oesophagostomiasis

Infection By Oesophagostomum

Oesophagostomosis

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2

X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 2	Enamel Hypoplasia, X-Linked
Aih3	Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly
Aih3, Formerly	Amelogenesis Imperfecta, Type Ie, X-Linked 2
Amelogenesis Imperfecta Type Ie X-Linked 2	Amelogenesis Imperfecta 3 Hypoplastic Type
X-Linked Enamel Hypoplasia	Amelogenesis Imperfecta 3, Hypoplastic Type
Amelogenesis Imperfecta-3, Hypoplastic Type	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

Epulis

Epulides	Gingival Polyp
Polyp Of Gum

Tooth Resorption

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

Root Caries

Cementum Caries

Dental Caries Of Root Surface

Dental Pulp Necrosis

Pulp Necrosis	Necrotic Pulp
Necrosis Of The Pulp	Dead Pulp
Devitalised Pulp	Putrescent Pulpitis
Devitalized Tooth	Dental Pulp Gangrene
Pulp Gangrene	Nonvital Tooth
Pulpless Tooth	Putrescent Pulp

Hypercementosis

Cementation Hyperplasia

Dentine Erosion

Dental Pulp Calcification

Pulp Calcification	Pulp Calcifications
Pulpal Calcifications	Dental Pulp Stone

Ovarian Gonadoblastoma

Congenital Epulis

Gingival Neoplasms	Congenital Epulides
Congenital Gingival Cell Tumor	Congenital Granular Cell Tumor
Neumann Tumor

Non-Gestational Choriocarcinoma

Choriocarcinoma, Non-Gestational

Dentin Dysplasia

Dentinal Dysplasia	Dd
Dysplasia, Dentin	Shell Teeth

Gestational Choriocarcinoma

Gestational Chorionepithelioma

Molar Pregnancy With Choriocarcinoma

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

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

Dental Pulp Disease

Dental Pulp Diseases	Dental Pulp Disorder
Disorder Of Pulp Of Tooth	Pulp Disorder

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome	Tdo Syndrome
Trichodontoosseous Syndrome	TDO
Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse

PPKNEFD	Focal Or Diffuse Nonepidermolytic Palmoplantar Keratoderma
Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma With Plantar Blistering	Palmoplantar Keratoderma, Non-Epidermolytic, Focal Or Diffuse
Nonepidermolytic Focal Or Diffuse Palmoplantar Keratoderma	Keratoderma, Palmoplantar, Nonepidermolytic, Focal Or Diffuse

Gingival Recession

Localized Gingival Recession	Gingival Recession, Localized
Minimal Gingival Recession	Moderate Gingival Recession
Severe Gingival Recession	Gingival Recession, Minimal
Gingival Recession, Severe	Atrophy Of Gums
Gum Atrophy	Gingival Atrophy

Epithelioid Trophoblastic Tumor

Trophoblastic Tumor, Epithelioid

Papillary Craniopharyngioma

Craniopharyngioma, Papillary	Papillary Rathke'S Pouch Tumor
Craniopharyngioma Papillary

Gingival Disease

Gingival Diseases	Gum Disease
Gingival Disorder	Gingivitis And Periodontal Diseases

Orofaciodigital Syndrome Viii

Edwards Syndrome	Trisomy 18
Complete Trisomy 18 Syndrome	OFD8
Orofaciodigital Syndrome 8	Trisomy 18 Syndrome
Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis	E3 Trisomy
Oral-Facial-Digital Syndrome Type 8	Orofaciodigital Syndrome Type 8
Ofds Viii	Oral-Facial-Digital Syndrome, Type Viii
Ofd Syndrome 8	Ofds 8
Oral Facial Digital Syndrome 8	Oral Facial Digital Syndrome Type 8
18 Trisomy	Chromosome 18 Trisomy
Trisomy 16-18	Trisomy E
Trisomy E Syndrome	Chromosome 18 Duplication
Oral-Facial-Digital Syndrome, Edwards Type	Orofaciodigital Syndrome, Edwards Type
Chromosome 18, Trisomy	Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
Trisomy 18 Chromosome	Abnormal Autosomes 18

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

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia	Hed
Anhidrotic Ectodermal Dysplasia	Ectodermal Dysplasia, Hypohidrotic
Eda	Christ-Siemens-Touraine Syndrome
ECTD10B	Ectodermal Dysplasia Anhidrotic
Ectodermal Dysplasia, Anhidrotic	Cst Syndrome
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
Dysplasia, Ectodermal, Hypohidrotic	Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal Dysplasia 3, Anhidrotic	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

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-RS00647	AMELX Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AMELX	VGNC	VGNC:108385
Mus musculus	AMELX	MGD	MGI:88005
Rattus norvegicus	AMELX	RGD	RGD:2107
Others	AMELX	NCBI