HSPG2 gene

Introduction

1p36.1-p34

Function

• gene for perlecan (heparan sulfate proteoglycan of basement membrane)

Pathology

• mutations seen in
  • dyssegmental dysplasia, Silverman-Handmaker type
  • Schwartz-Jampel syndrome type I

More general terms

• unclassified gene

Database

• OMIM: https://mirror.omim.org/entry/142461
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3339