1. Gene
  2. AMELX - amelogenin X-linked Gene

AMELX - amelogenin X-linked Gene

中文名称:牙釉蛋白 X 连锁

种属: Homo sapiens

同用名: AMG; AI1E; AIH1; ALGN; AMGL; AMGX

基因 ID: 265 | 基因类型: protein coding

关于 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.

功能概要

该基因编码细胞外基质蛋白牙釉蛋白家族的成员。牙釉质蛋白参与牙釉质发育过程中的生物矿化。该基因的突变会导致 X 连锁釉质发育不全症。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
18434575 GOA
enables structural constituent of tooth enamel IDA
IDA: 通过直接分析推断
1734713 GOA
enables structural constituent of tooth enamel IMP
IMP: 通过突变表型推断
1483698 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in enamel mineralization IMP
IMP: 通过突变表型推断
1916828 GOA
involved in tooth mineralization IMP
IMP: 通过突变表型推断
1483698 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in collagen-containing extracellular matrix IDA
IDA: 通过直接分析推断
2509010 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

AMELX 蛋白结构

Amelogenin

Amelogenin: Amelogenin (17 - 191)

  • 0
  • 100
  • 191 a.a.
蛋白主名 其他名称

amelogenin, X isoform

amelogenin (X chromosome, amelogenesis imperfecta 1)

重组 AMELX 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71627 AMELX Protein, Human (His-SUMO) Q99217 (17M-191D) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris AMELX VGNC VGNC:108385
Mus musculus AMELX MGD MGI:88005
Rattus norvegicus AMELX RGD RGD:2107
Others AMELX NCBI