Aliases: CLG3.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Spondyloepimetaphyseal Dysplasia Missouri Type | causative |
mechanism: MMP13 Propeptide Misfolding
|
| Metaphyseal anadysplasia |
untyped
Causal monoallelic variant
|
mechanism: Dominant MMP13 Prodomain Autoactivation
subtype: Type 1
animal model: Mmp9/Mmp13 single- and double-knockout mouse
|
| Metaphyseal dysplasia, Spahr type |
untyped
Causal biallelic variant
|
mechanism: Biallelic MMP13 Catalytic-Domain Loss of Function
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.