Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| skos:definition |
NCI: Human HSPG2 wild-type allele is located within 1p36.1-p34 and is approximately 115 kb in length. This allele, which encodes basement membrane-specific heparan sulfate proteoglycan core protein, plays a role in both the structure of and cell interaction with the basement membrane. Mutation of the gene is associated with both Schwartz-Jampel syndrome and Silverman-Handmaker type dyssegmental dysplasia.
|
| skos:inScheme | |
| skos-xl:prefLabel | |
| skos-xl:altLabel |