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MGP000796

UniProt Annotations

Entry Information
Gene Namedecorin
Protein EntryPGS2_HUMAN
UniProt IDP07585
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=A; IsoId=P07585-1; Sequence=Displayed; Name=B; IsoId=P07585-2; Sequence=VSP_006172; Name=C; IsoId=P07585-3; Sequence=VSP_006173; Name=D; IsoId=P07585-4; Sequence=VSP_006174; Name=E; IsoId=P07585-5; Sequence=VSP_006175, VSP_006176;
DiseaseCorneal dystrophy, congenital stromal (CSCD) [MIM:610048]: A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay affect the rate of fibrils formation.
PtmThe attached glycosaminoglycan chain can be either chondroitin sulfate or dermatan sulfate depending upon the tissue of origin.
SimilarityBelongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily. {ECO:0000305}.
SimilarityContains 12 LRR (leucine-rich) repeats. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space, extracellular matrix.
SubunitBinds to type I and type II collagen, fibronectin and TGF-beta. Forms a ternary complex with MFAP2 and ELN. Interacts with DPT (By similarity). {ECO:0000250}.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/dcn/";
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