1. Gene
  2. AMTN - amelotin Gene

AMTN - amelotin Gene

Homo sapiens

Also known as AI3B; UNQ689

Gene ID: 401138 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25789606 GOA
Biological Process GO Annotation Evidence Reference 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%

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

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