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ACAN - aggrecan
- Synonym(s) : aggrecan proteoglycan, CSPGCP
- Previous symbols and names : AGC1, CSPG1, MSK16, aggrecan 1, chondroitin sulfate proteoglycan 1
- Type : gene with protein product
- Chromosomal location : 15q26.1
- OMIM: 155760
- HGNC: 319
- UniProtKB: P16112
- Genatlas: ACAN
- GenCC: ACAN
- Ensembl: ENSG00000157766
- IUPHAR-DB: -
- Reactome: P16112
- LOVD: ACAN
Diseases list
- Disease-causing germline mutation(s) in Familial osteochondritis dissecans
ORPHA:251262 
- Disease-causing germline mutation(s) in Spondyloepimetaphyseal dysplasia, aggrecan type
ORPHA:171866 - Disease-causing germline mutation(s) in Spondyloepiphyseal dysplasia, Kimberley type
ORPHA:93283 - Disease-causing germline mutation(s) (loss of function) in Short stature-advanced bone age-early-onset osteoarthritis syndrome
ORPHA:435804
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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