Leprecan
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| leucine proline-enriched proteoglycan (leprecan) 1 | |
|---|---|
| Identifiers | |
| Symbol | LEPRE1 |
| Entrez | 64175 |
| HUGO | 19316 |
| OMIM | 610339 |
| RefSeq | NM_022356 |
| UniProt | Q32P28 |
| Other data | |
| Locus | Chr. 1 p34.1 |
Leprecan is a protein associated with osteogenesis imperfecta[1] 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 glysosylation.[2]
References
- ↑ Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, et al. (March 2007). "Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta". Nature Genetics. 39 (3): 359–65. doi:10.1038/ng1968. PMID 17277775.
- ↑ Aravind L, Koonin EV (2001-02-19). "The DNA-repair protein AlkB, EGL-9, and leprecan define new families of 2-oxoglutarate- and iron-dependent dioxygenases". Genome Biology. 2 (3): RESEARCH0007. doi:10.1186/gb-2001-2-3-research0007. PMID 11276424.
External links
- leprecan+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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