AMBN - ameloblastin Gene

Homo sapiens

Also known as AI1F

Gene ID: 258 | Gene type: protein coding

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

AMBN Protein Structure

Amelin

0
100
200
300
400
447 a.a.

Protein Preferred Names

Protein Names

ameloblastin

enamel matrix protein

Recombinant AMBN Proteins

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00641	AMBN Human Pre-designed siRNA Set A		/	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