MMP20 - matrix metallopeptidase 20 Gene

中文名称：基质金属肽酶 20

种属: Homo sapiens

同用名: AI2A2; MMP-20

基因 ID: 9313 | 基因类型: protein coding

关于 MMP20

Cytogenetic location: 11q22.2 Genomic coordinates (GRCh38): 11:102,576,832-102,625,332 (from NCBI)

This gene has 3 transcripts (splice variants), 285 orthologues, 23 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

基质金属蛋白酶 (MMP) 家族的蛋白质参与正常生理过程 (如胚胎发育、繁殖和组织重塑) 以及疾病过程 (如关节炎和转移) 中细胞外基质的分解。大多数 MMP's 被分泌为无活性的前蛋白，当被细胞外蛋白酶切割时被激活。由该基因编码的蛋白质降解牙釉质基质的主要蛋白质成分牙釉质，因此被认为在牙釉质形成中发挥作用。该基因的突变会改变正常的剪接模式并导致编码蛋白质的过早终止，与釉质发育不全症有关。该基因是位于染色体 11q22.3 上的 MMP 基因簇的一部分。[RefSeq 提供，2011 年 8 月]

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]

MMP20 基因产物(1)

mRNA	Protein	Name
NM_004771.4	NP_004762.2	matrix metalloproteinase-20 preproprotein

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables metalloendopeptidase activity	IDA IDA: 通过直接分析推断	9398237	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	18434575	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

MMP20 蛋白结构

PG_binding_1

Peptidase_M10

Hemopexin

0
100
200
300
400
483 a.a.

蛋白主名

其他名称

matrix metalloproteinase-20

enamel metalloproteinase

关联疾病

疾病名称

别名

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

Aih	Hypomaturation Amelogenesis Imperfecta
Amelogenesis Imperfecta Type 2

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

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

Dentin Caries

Compound Dental Caries	Dental Caries Extending Into Dentine
Dental Caries Extending Into Dentin

Dental Fluorosis

Mottled Teeth	Intrinsic Enamel Discolouration Of Fluorosis
Mottling Of Enamel	Fluorosis, Dental
Dental Fluorosis, Acquired

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

Ameloblastoma

Adenoameloblastoma

Teeth Hard Tissue Disease

Hypercementosis

Cementation Hyperplasia

Craniopharyngioma

Neoplasm Of Rathke'S Pouch	Adamantinomatous Tumor
Craniopharyngeal Duct Tumor	Dysodontogenic Epithelial Tumor
Rathke'S Pouch Tumor

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

Dentin Dysplasia

Dentinal Dysplasia	Dd
Dysplasia, Dentin	Shell Teeth

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome	Tdo Syndrome
Trichodontoosseous Syndrome	TDO
Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Fetal Adenoma

Microfollicular Adenoma

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

Enamel Erosion

Papillary Craniopharyngioma

Craniopharyngioma, Papillary	Papillary Rathke'S Pouch Tumor
Craniopharyngioma Papillary

Dental Anomalies And Short Stature

Brachyolmia-Amelogenesis Imperfecta Syndrome	Platyspondyly With Amelogenesis Imperfecta
DASS	Verloes Bourguignon Syndrome
Verloes-Bourguignon Syndrome	Vbs
Sthag6	Tooth Agenesis, Selective, 6
Tooth Agenesis, Selective, 6, Formerly	Sthag6, Formerly
Selective Tooth Agenesis 5	Amelogenesis Imperfecta And Platyspondyly
Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly	Platyspondyly-Amelogenesis Imperfecta Syndrome

Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor	Craniopharyngioma, Adamantinomatous
Adamantinomatous Craniopharyngioma

Tooth Erosion

Generalized Erosion	Localized Erosion
Generalized Erosions	Erosion, Localized

Gingival Fibromatosis

Hereditary Gingival Fibromatosis	Hereditary Gingival Hyperplasia
Autosomal Dominant Gingival Fibromatosis	Autosomal Dominant Gingival Hyperplasia
Fibromatosis, Gingival, Hereditary	Fibromatosis, Gingival

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-128026	MMP-9/MMP-13 Inhibitor I	Inhibitor	99.90%	否
HY-RS08540	MMP20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	MMP20	VGNC	VGNC:31525
Mus musculus	MMP20	MGD	MGI:1353466
Rattus norvegicus	MMP20	RGD	RGD:1308730
Felis catus	MMP20	VGNC	VGNC:68288
Macaca mulatta	MMP20	VGNC	VGNC:74898
Canis familiaris	MMP20	VGNC	VGNC:43281

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上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MMP20 - matrix metallopeptidase 20 Gene

关于 MMP20

功能概要

MMP20 基因产物(1)

MMP20 蛋白结构

关联疾病

直系同源

热门区域

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MMP20 - matrix metallopeptidase 20 Gene

关于 MMP20

功能概要

MMP20 基因产物(1)

MMP20 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z