About: HSPG2 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • HSPG2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 142461
GenBank_Accession_Number
  • M85289
Semantic_Type
  • Gene or Genome
Preferred_Name
  • HSPG2 wt Allele
UMLS_CUI
  • C2987154
EntrezGene_ID
  • 3339
HGNC_ID
  • HGNC:5273
FULL_SYN
  • PLCSYNCI
  • Perlecan GeneSYNCI
  • HSPG2 wt AllelePTNCI
  • SJASYNCI
  • SJSSYNCI
  • Perlecan Proteoglycan GeneSYNCI
  • SJS1SYNCI
  • PRCANSYNCI
  • Heparan Sulfate Proteoglycan 2 wt AlleleSYNCI
  • Schwartz-Jampel Syndrome 1 (Chondrodystrophic Myotonia) GeneSYNCI
DEFINITION
  • 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.NCI
DesignNote
  • Ensembl reports the HSPG2 gene is located in the vicinity of 1p36.12 and HGNC reports it within 1p36.1-p35.
code
  • C95447
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