MATN1 - matrilin 1 Gene

Homo sapiens

Also known as CMP; CRTM

Gene ID: 4146 | Gene type: protein coding

About MATN1

Cytogenetic location: 1p35.2 Genomic coordinates (GRCh38): 1:30,711,277-30,723,585 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues and 12 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]

MATN1 Products(1)

mRNA	Protein	Name
NM_002379.3	NP_002370.1	cartilage matrix protein precursor

MATN1 Protein Structure

VWA

FXa_inhibition

VWA

Matrilin_ccoil

0
100
200
300
400
496 a.a.

Protein Preferred Names

Protein Names

cartilage matrix protein

matrilin 1, cartilage matrix protein

Related Diseases

Diseases

Alias

Relapsing Polychondritis

Polychondropathia	Polychondritis, Relapsing
Chondromalacia, Systemic	Chronic Atrophic Polychondritis
Recurrent Polychondritis	Polychondritis Relapsing

Epidermolysis Bullosa Acquisita

Acquired Epidermolysis Bullosa	Eb Acquisita
Eba	Eba - [Epidermolysis Bullosa Acquisita]

Pseudoachondroplasia

PSACH	Pseudoachondroplastic Dysplasia
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome	Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
Pseudoachondroplastic Spondyloepiphyseal Dysplasia	Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Osteoarthritis

Osteoarthrosis	Degenerative Joint Disease
Hypertrophic Arthritis	Arthropathy
Degenerative Polyarthritis	Degenerative Arthritis
Osteoarthrosis And Allied Disorder	Arthritis, Degenerative
Oa	Osteoarthritis Deformans
Osteoarthrosis Deformans	Kashin-Beck Disease

Synovitis

Parastremmatic Dwarfism

Parastremmatic Dysplasia	PSTD
Dwarfism, Parastremmatic

Chondromalacia

Chondromalacia, Unspecified Site

Chondromalacia Nos

Epidermolysis Bullosa

Acantholysis Bullosa

Achondrogenesis, Type Ii

Achondrogenesis Type Ii	ACG2
Achondrogenesis, Langer-Saldino Type	Achondrogenesis Type 2
Chondrogenesis Imperfecta	Achondrogenesis, Type Ib, Formerly
Achondrogenesis, Type Ii Or Hypochondrogenesis	Achondrogenesis 2
Acg-Ii	Achondrogenesis-Hypochondrogenesis Type Ii
Achondrogenesis Langer-Saldino Type	Achondrogenesis-Hypochondrogenesis, Type Ii
Hypochondrogenesis

Transient Bullous Dermolysis Of The Newborn

TBDN	Transient Bullous Of The Newborn
Epidermolysis Bullosa Dystrophica, Neonatal Form	Dystrophic Epidermolysis Bullosa, Neonatal
Deb, Bullous Dermolysis Of The Newborn	Deb-Bdn
Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form	Self-Improving Dystrophic Epidermolysis Bullosa
Self-Improving Deb	Epidermolysis Bullosa Dystrophica Dominant Neonatal Type

Scoliosis

Geleophysic Dysplasia 2

GPHYSD2	Geleophysic Dwarfism
Dysplasia, Geleophysic, Type 2	Geleophysic Dysplasia

Febrile Seizures, Familial, 4

FEB4	Convulsions, Familial Febrile, 4
Familial Febrile Seizures 4	Familial Febrile Convulsions 4

Capillary Malformations, Congenital

Familial Multiple Nevi Flammei	Nevi Flammei, Familial Multiple
CMC	Port-Wine Stain
Capillary Malformations	Cmal
Familial Multiple Port-Wine Stains	Capillary Malformation
Capillary Malformations, Congenital, 1, Somatic, Mosaic	Congenital Capillary Malformations
Port-Wine Stain Familial Multiple	Hereditary Capillary Malformations
Capillary Malformations, Hereditary	Capillary Malformations, Congenital, Type 1, Somatic, Mosaic
Strawberry Nevus Of Skin	Naevus Flammeus

Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Cartilage Disease

Cartilage Diseases	Cartilage
Cartilage Disorder	Chondropathy
Cartilage Disorders

Syringomyelia

Hydromyelia

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia	Camptomelic Dysplasia
Campomelic Dysplasia With Autosomal Sex Reversal	Cmpd
CMD1	Cmpd1
Cmpd1/Sra1	Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
Campomelic Dwarfism	Campomelic Syndrome
Dysplasia, Campomelic	Chronic Myeloproliferative Disorder
Familial Dilated Cardiomyopathy

Metaphyseal Chondrodysplasia, Schmid Type

MCDS	Schmid Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasia Schmid Type	Spondylometaphyseal Dysplasia, Japanese Type
Japanese Type Spondylometaphyseal Dysplasia	Schmid Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia Type Schmid	Schmid Type Metaphyseal Chondrodysplasia
SMCD	Chondrodysplasia, Metaphyseal, Schmid Type
Corneal Dystrophy, Subepithelial Mucinous

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

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-RS08170	MATN1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MATN1	VGNC	VGNC:68194
Macaca mulatta	MATN1	VGNC	VGNC:106405
Canis familiaris	MATN1	VGNC	VGNC:52217
Mus musculus	MATN1	MGD	MGI:106591
Bos taurus	MATN1	VGNC	VGNC:31264
Rattus norvegicus	MATN1	RGD	RGD:1359410

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