词条 | Leprecan |
释义 |
|Name=leucine proline-enriched proteoglycan (leprecan) 1 |caption= |image= |width= |HGNCid=19316 |Symbol=LEPRE1 |AltSymbols= |EntrezGene=64175 |OMIM=610339 |RefSeq=NM_022356 |UniProt=Q32P28 |PDB= |ECnumber= |Chromosome=1 |Arm=p |Band=34.1 |LocusSupplementaryData= }} 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] References1. ^{{cite journal | vauthors = Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC | display-authors = 6 | title = Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta | journal = Nature Genetics | volume = 39 | issue = 3 | pages = 359–65 | date = March 2007 | pmid = 17277775 | doi = 10.1038/ng1968 }} 2. ^{{cite journal | vauthors = Aravind L, Koonin EV | title = The DNA-repair protein AlkB, EGL-9, and leprecan define new families of 2-oxoglutarate- and iron-dependent dioxygenases | journal = Genome Biology | volume = 2 | issue = 3 | pages = RESEARCH0007 | date = 2001-02-19 | pmid = 11276424 | doi = 10.1186/gb-2001-2-3-research0007 }} External links
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