MMP20 - matrix metallopeptidase 20 Gene

Homo sapiens

Also known as AI2A2; MMP-20

Gene ID: 9313 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

MMP20 Protein Structure

PG_binding_1

Peptidase_M10

Hemopexin

0
100
200
300
400
483 a.a.

Protein Preferred Names

Protein Names

matrix metalloproteinase-20

enamel metalloproteinase

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08540	MMP20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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