AMTN - amelotin Gene

Also Known as AI3B; UNQ689

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 401138

About AMTN

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:70,518,569-70,532,743 (from NCBI)

This gene has 2 transcripts (splice variants), 91 orthologues and is associated with 2 phenotypes. Biased expression in stomach (RPKM 3.1), prostate (RPKM 1.0) and 1 other tissue.

Summary

The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]

AMTN Products (2)

mRNA	Protein	Name
NM_001286731.2	NP_001273660.1	amelotin isoform 2 precursor
NM_212557.4	NP_997722.1	amelotin isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

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

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of biomineral tissue development	IDA IDA: Inferred from direct assay	25407797	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

Protein Preferred Names	Protein Names
amelotin	RSTI689

Recombinant AMTN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76725	Amelotin Protein, Human (HEK293, Fc)	Q6UX39-1 (L17-Q209)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Amelogenesis Imperfecta, Type Iiib	Amelogenesis Imperfecta Type 3b AI3B Amelogenesis Imperfecta 3b
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	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Amelogenesis Imperfecta, Type Iiic	AI3C Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive Amelogenesis Imperfecta Type 3c Amelogenesis Imperfecta, Type 3c Amelogenesis Imperfecta Type Iiic Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type Amelogenesis Imperfecta 3c
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
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
Dental Fluorosis	Mottled Teeth Intrinsic Enamel Discolouration Of Fluorosis Mottling Of Enamel Fluorosis, Dental Dental Fluorosis, Acquired
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
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis Imperfecta Hypomaturation Type 2a5 AI2A5 Amelogenesis Imperfecta, Type Iia5 Amelogenesis Imperfecta Hypomaturation Type Iia5 Amelogenesis Imperfecta Type Iia5 Amelogenesis Imperfecta, Hypomaturation Type, 2a5
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis Imperfecta Hypomaturation Type 2a3 AI2A3 Amelogenesis Imperfecta Hypomaturation Type Iia3 Amelogenesis Imperfecta, Type Iia3 Amelogenesis Imperfecta Type Iia3 Amelogenesis Imperfecta, Hypomaturation Type, 2a3
Teeth Hard Tissue Disease
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
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

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-RS00671	AMTN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20247	Amtn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26755	Amtn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AMTN	MGD	MGI:1918671
Canis familiaris	AMTN	VGNC	VGNC:37841
Felis catus	AMTN	VGNC	VGNC:59772
Bos taurus	AMTN	VGNC	VGNC:25876
Rattus norvegicus	AMTN	RGD	RGD:1592356
Macaca mulatta	AMTN	VGNC	VGNC:69750
Others	AMTN	NCBI