Gene Symbol | MATN1 |
Entrez Gene ID | 4146 |
Full Name | matrilin 1, cartilage matrix protein |
Synonyms | CMP,CRTM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: |