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HSPG2 - heparan sulfate proteoglycan 2
- Synonym(s) : endorepellin, perlecan, perlecan proteoglycan, PRCAN
- Previous symbols and names : SJS1, Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)
- Type : gene with protein product
- Chromosomal location : 1p36.12
- OMIM: 142461
- HGNC: 5273
- UniProtKB: P98160
- Genatlas: HSPG2
- GenCC: HSPG2
- Ensembl: ENSG00000142798
- IUPHAR-DB: -
- Reactome: P98160
- LOVD: HSPG2
Diseases list
- Disease-causing germline mutation(s) in Dyssegmental dysplasia, Silverman-Handmaker type
ORPHA:1865 
- Disease-causing germline mutation(s) (loss of function) in Schwartz-Jampel syndrome
ORPHA:800 - Role in the phenotype of 1p36 deletion syndrome
ORPHA:1606
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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