AMELX - amelogenin X-linked Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 265

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18434575	GOA
enables structural constituent of tooth enamel	IDA IDA: Inferred from direct assay	1734713	GOA
enables structural constituent of tooth enamel	IMP IMP: Inferred from mutant phenotype	1483698	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in enamel mineralization	IMP IMP: Inferred from mutant phenotype	1916828	GOA
involved in tooth mineralization	IMP IMP: Inferred from mutant phenotype	1483698	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	2509010	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

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 (M17-D191)	≥ 90%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00647	AMELX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19982	Amelx Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26486	Amelx Rat Pre-designed siRNA Set A	Pre-designed Set	/	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