Leprecan is a protein associated with
osteogenesis imperfecta
Osteogenesis imperfecta (; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may b ...
type VIII.
Leprecan is part of a superfamily of 2OG-Fe(II) dioxygenase, along with DNA repair protein AlkB, and disease resistant EGL-9. The enzyme was found to be a type of hydroxylases used in the substrate formation of protein glycosylation.
Activities
Leprecan, a
proteoglycan, has demonstrated prolyl hydroxylase activity; prolyl hydroxylases hydroxylate
proline residues. Prolyl 3-hydroxylase 1, P3H1, forms a larger complex with
CRTAP and
cyclophilin
Cyclophilins (CYPs) are a family of proteins named after their ability to bind to ciclosporin (cyclosporin A), an immunosuppressant which is usually used to suppress rejection after internal organ transplants. They are found in all domains of l ...
B, CyPB, in the
endoplasimic reticulum. The complex hydroxylates a single proline residue, Pro986, on
collagen chains. Recessive forms of
Osteogenesis Imperfecta
Osteogenesis imperfecta (; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may b ...
are partly caused by a mutation in the ''LEPRE1'' gene that encodes prolyl 3-hydroxylase 1; malfunctioning prolyl 3-hydroxylase in leprecan leads to inappropriate collagen folding due to instability caused by the absence of
hydroxyproline
(2''S'',4''R'')-4-Hydroxyproline, or L-hydroxyproline ( C5 H9 O3 N), is an amino acid, abbreviated as Hyp or O, ''e.g.'', in Protein Data Bank.
Structure and discovery
In 1902, Hermann Emil Fischer isolated hydroxyproline from hydrolyzed gelati ...
, the product of hydroxylating a proline residue.
References
External links
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{{Fibrous proteins