MMP20 - matrix metallopeptidase 20 Gene

Also Known as AI2A2; MMP-20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9313

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	9398237	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18434575	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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS08540	MMP20 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08544	MMP25 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19220	Mmp25 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MMP20	NCBI