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HSPG2 gene
1p36.1-p34
Function:
- gene for perlecan (heparan sulfate proteoglycan of basement membrane)
Pathology:
- mutations seen in
a) dyssegmental dysplasia, Silverman-Handmaker type
b) Schwartz-Jampel syndrome type I
Related
basement membrane-specific heparan sulfate proteoglycan core protein; HSPG; perlecan; PLC (HSPG2)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: basement membrane-specific heparan sulfate proteoglycan core protein
LOCUS: human chromosome-1 P36.1
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 142461
Entrez Gene 3339