MATN4 Chromosome 20
Matrilin 4
Upload your DNA to see your personal genotypes for variants in MATN4.
What This Gene Does
This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Matrilins
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000124159
Associated Conditions (1)
7 conditions
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS730882210 | Health Risk | Likely pathogenic | 7 conditions, 7 conditions |