AMBN - ameloblastin Gene

Also Known as AI1F

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 258

About AMBN

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:70,592,256-70,607,288 (from NCBI)

This gene has 2 transcripts (splice variants), 103 orthologues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]

AMBN Products (1)

mRNA	Protein	Name
NM_016519.6	NP_057603.1	ameloblastin precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	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

AMBN Protein Structure

Amelin

0
100
200
300
400
447 a.a.

Protein Preferred Names	Protein Names
ameloblastin	enamel matrix protein

AMBN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AMBN	Q9NP70	COL26A1	Homo sapiens	Q96A83-2	Validated Y2H	32814053
Intra	AMBN	Q9NP70	COL26A1	Homo sapiens	Q96A83-2	Y2H Array	32814053
Intra	AMBN	Q9NP70	COL26A1	Homo sapiens	Q96A83-2	Y2H Pooling	32814053
Intra	AMBN	Q9NP70	ICAM5	Homo sapiens	Q9UMF0	Y2H Array	32814053
Intra	AMBN	Q9NP70	ICAM5	Homo sapiens	Q9UMF0	Validated Y2H	32814053
Intra	AMBN	Q9NP70	ICAM5	Homo sapiens	Q9UMF0	Y2H Pooling	32814053
Intra	AMBN	Q9NP70	F11R	Homo sapiens	Q9Y624	Y2H Array	32814053
Intra	AMBN	Q9NP70	F11R	Homo sapiens	Q9Y624	Y2H Pooling	32814053
Intra	AMBN	Q9NP70	F11R	Homo sapiens	Q9Y624	Validated Y2H	32814053
Intra	AMBN	Q9NP70	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183
Intra	AMBN	Q9NP70	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183
Intra	AMBN	Q9NP70	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AMBN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7494	Ameloblastin Protein, Human (HEK293, His)	AAI06932.1 (V27-P447)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Amelogenesis Imperfecta, Type If	Amelogenesis Imperfecta Type 1f AI1F Amelogenesis Imperfecta, Hypoplastic Type If Amelogenesis Imperfecta Type If Amelogenesis Imperfecta Hypoplastic Type If Amelogenesis Imperfecta 1f
Hypoplastic Amelogenesis Imperfecta	Amelogenesis Imperfecta Type 1 Amelogenesis Imperfecta, Hypoplastic Type Amelogenesis Imperfecta Local Hypoplastic Form
Ameloblastoma	Adenoameloblastoma
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Dental Fluorosis	Mottled Teeth Intrinsic Enamel Discolouration Of Fluorosis Mottling Of Enamel Fluorosis, Dental Dental Fluorosis, Acquired
Tooth Ankylosis	Ankylosis Of Teeth Ankylosis Of Tooth
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, 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 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
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
Teeth Hard Tissue Disease
Hypercementosis	Cementation Hyperplasia
Amyloid Tumor	Amyloid Neoplasm Amyloid Tumour
Tooth Resorption
Suppurative Periapical Periodontitis	Periapical Abscess Apical Abscess Suppurative Apical Periodontitis Dentoalveolar Abscess Dental Abscess With Sinus Dentoalveolar Abscess With Sinus Dental Sinus Periapical Abscess Fistula Apical Tooth Abscess Apex Abscess Dental Abscess Nos Infection Of Tooth Nos Abscess Of Tooth Dental Infection Nos
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
Dentine Erosion
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
Enamel Caries	Primary Dental Caries Dental Caries Limited To Enamel Simple Dental Cavity
Gingival Disease	Gingival Diseases Gum Disease Gingival Disorder Gingivitis And Periodontal Diseases
Hermansky-Pudlak Syndrome 6	HPS6 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 6 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Tooth Erosion	Generalized Erosion Localized Erosion Generalized Erosions Erosion, Localized
Pulp Degeneration	Degeneration Of Dental Pulp
Root Caries	Cementum Caries Dental Caries Of Root Surface
Dentin Dysplasia	Dentinal Dysplasia Dd Dysplasia, Dentin Shell Teeth
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
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
Bone Benign Neoplasm
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
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
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-RS00641	AMBN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17485	Ambn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23943	Ambn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AMBN	VGNC	VGNC:67439
Rattus norvegicus	AMBN	RGD	RGD:2101
Canis familiaris	AMBN	VGNC	VGNC:37825
Mus musculus	AMBN	MGD	MGI:104655
Bos taurus	AMBN	VGNC	VGNC:25857
Macaca mulatta	AMBN	VGNC	VGNC:69803
Others	AMBN	NCBI