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MATN3

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia
Protein class

Disease related genes, Human disease related genes

Predicted location

Secreted

Single cell type specificity

Group enriched (Alveolar cells type 1, Sertoli cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (Hep G2)

Interaction

Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1 (By similarity). Interacts with COMP. Component of a complex containing at least CRELD2, MANF, MATN3 and PDIA4 (By similarity).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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