MATN1
Sign in to saveAlso known as CMP, CRTM, matrilin 1, cartilage matrix protein, matrilin 1
Matrilin 1, cartilage matrix protein, also known as MATN1, is a matrilin protein which in humans is encoded by the MATN1 gene.
Gene data
MATN1- Name
- matrilin 1
- Type
- protein-coding
- Aliases
- CMP, CRTM
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].
via MyGene.info
Gene · Ensembl
matrilin 1
- Symbol
- MATN1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:30,711,277-30,723,585
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 1783
- exact match
- identifiers.org/ncbigene/4146
- genomic end
- 30723585
- genomic start
- 31184124
- cytogenetic location
- 1p35.2
Sources (3)
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- Function
- References
- Further reading
Matrilin 1, cartilage matrix protein, also known as MATN1, is a matrilin protein which in humans is encoded by the MATN1 gene.
== Function == 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. Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.