Search for a gene
MMP13 - matrix metallopeptidase 13
- Synonym(s) : CLG3, collagenase 3
- Previous symbols and names : matrix metalloproteinase 13 (collagenase 3)
- Type : gene with protein product
- Chromosomal location : 11q22.2
- OMIM: 600108
- HGNC: 7159
- UniProtKB: P45452
- Genatlas: MMP13
- GenCC: MMP13
- Ensembl: ENSG00000137745
- IUPHAR-DB: 1637
- Reactome: P45452
- LOVD: MMP13
Diseases list
- Disease-causing germline mutation(s) in Spondyloepimetaphyseal dysplasia, Missouri type
ORPHA:93356 
- Disease-causing germline mutation(s) (loss of function) in Metaphyseal anadysplasia
ORPHA:1040 - Disease-causing germline mutation(s) (loss of function) in Metaphyseal chondrodysplasia, Spahr type
ORPHA:2501 - Disease-causing germline mutation(s) (gain of function) in Metaphyseal anadysplasia
ORPHA:1040
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.