XB-FEAT-957558

matn1

This is the community wiki page for the gene matn1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

02/19/2018

Human name has changed for Entrez Gene: 4146. From matrilin 1, cartilage matrix protein to matrilin 1

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]