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Rabbit Anti-LEPRE1 antibody
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Function:
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.
Subcellular Location:
Endoplasmic reticulum. Secreted > extracellular space > extracellular matrix. Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan.
Post-translational modifications:
O-glycosylated; chondroitin sulfate.
DISEASE:
Defects in LEPRE1 are the cause of osteogenesis imperfecta type 8 (OI8) [MIM:610915]. A connective tissue disorder characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.
Similarity:
Belongs to the leprecan family.
Contains 1 Fe2OG dioxygenase domain.
Contains 4 TPR repeats.
SWISS:
Q32P28
Gene ID:
64175
Database links:
Entrez Gene: 64175 Human
Entrez Gene: 51281 Mouse
Entrez Gene: 114200 Rat
Omim: 610339 Human
SwissProt: Q32P28 Human
SwissProt: Q3V1T4 Mouse
SwissProt: Q9R1J8 Rat
Unigene: 144014 Human
Unigene: 27961 Mouse
Unigene: 13741 Rat
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