Disease-gene associations mined from literature

Literature associating LEPRE1 and osteogenesis imperfecta type 7

LEPRE1 [ENSP00000236040]

Leucine proline-enriched proteoglycan (leprecan) 1; Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro- Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.

Synonyms:  LEPRE1,  LEPRE1p,  hLEPRE1,  B4DNM8,  B4DTG8 ...

Linkouts:  STRING  Pharos  UniProt