COL18A1

Collagen, type XVIII, alpha 1, also known as COL18A1, is a human gene.

PBB_Summary
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summary_text = This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Two transcript variants encoding different isoforms have been found for this gene. [cite web | title = Entrez Gene: COL18A1 collagen, type XVIII, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80781| accessdate = ]

ee also

Collagen

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Pufe T, Kurz B, Petersen W, "et al." |title=The influence of biomechanical parameters on the expression of VEGF and endostatin in the bone and joint system. |journal=Ann. Anat. |volume=187 |issue= 5-6 |pages= 461–72 |year= 2006 |pmid= 16320826 |doi=
*cite journal | author=Oh SP, Kamagata Y, Muragaki Y, "et al." |title=Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 10 |pages= 4229–33 |year= 1994 |pmid= 8183893 |doi=
*cite journal | author=Oh SP, Warman ML, Seldin MF, "et al." |title=Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. |journal=Genomics |volume=19 |issue= 3 |pages= 494–9 |year= 1994 |pmid= 8188291 |doi= 10.1006/geno.1994.1098
*cite journal | author=Sertié AL, Quimby M, Moreira ES, "et al." |title=A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. |journal=Hum. Mol. Genet. |volume=5 |issue= 6 |pages= 843–7 |year= 1996 |pmid= 8776601 |doi=
*cite journal | author=O'Reilly MS, Boehm T, Shing Y, "et al." |title=Endostatin: an endogenous inhibitor of angiogenesis and tumor growth. |journal=Cell |volume=88 |issue= 2 |pages= 277–85 |year= 1997 |pmid= 9008168 |doi=
*cite journal | author=Saarela J, Ylikärppä R, Rehn M, "et al." |title=Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts. |journal=Matrix Biol. |volume=16 |issue= 6 |pages= 319–28 |year= 1998 |pmid= 9503365 |doi=
*cite journal | author=Ding YH, Javaherian K, Lo KM, "et al." |title=Zinc-dependent dimers observed in crystals of human endostatin. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 18 |pages= 10443–8 |year= 1998 |pmid= 9724722 |doi=
*cite journal | author=Sasaki T, Göhring W, Miosge N, "et al." |title=Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins. |journal=FEBS Lett. |volume=460 |issue= 2 |pages= 280–4 |year= 1999 |pmid= 10544250 |doi=
*cite journal | author=Felbor U, Dreier L, Bryant RA, "et al." |title=Secreted cathepsin L generates endostatin from collagen XVIII. |journal=EMBO J. |volume=19 |issue= 6 |pages= 1187–94 |year= 2000 |pmid= 10716919 |doi= 10.1093/emboj/19.6.1187
*cite journal | author=Hattori M, Fujiyama A, Taylor TD, "et al." |title=The DNA sequence of human chromosome 21. |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518
*cite journal | author=Sertié AL, Sossi V, Camargo AA, "et al." |title=Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 2051–8 |year= 2000 |pmid= 10942434 |doi=
*cite journal | author=Rehn M, Veikkola T, Kukk-Valdre E, "et al." |title=Interaction of endostatin with integrins implicated in angiogenesis. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 3 |pages= 1024–9 |year= 2001 |pmid= 11158588 |doi= 10.1073/pnas.031564998
*cite journal | author=Karumanchi SA, Jha V, Ramchandran R, "et al." |title=Cell surface glypicans are low-affinity endostatin receptors. |journal=Mol. Cell |volume=7 |issue= 4 |pages= 811–22 |year= 2001 |pmid= 11336704 |doi=
*cite journal | author=Feng Y, Cui LB, Liu CX, Ma QJ |title= [Inhibition effect in vitro of purified endostatin expressed in Pichia pastoris] |journal=Sheng Wu Gong Cheng Xue Bao |volume=17 |issue= 3 |pages= 278–82 |year= 2001 |pmid= 11517600 |doi=
*cite journal | author=Iughetti P, Suzuki O, Godoi PH, "et al." |title=A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma. |journal=Cancer Res. |volume=61 |issue= 20 |pages= 7375–8 |year= 2001 |pmid= 11606364 |doi=
*cite journal | author=Wu P, Yonekura H, Li H, "et al." |title=Hypoxia down-regulates endostatin production by human microvascular endothelial cells and pericytes. |journal=Biochem. Biophys. Res. Commun. |volume=288 |issue= 5 |pages= 1149–54 |year= 2001 |pmid= 11700031 |doi= 10.1006/bbrc.2001.5903
*cite journal | author=Zorick TS, Mustacchi Z, Bando SY, "et al." |title=High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours. |journal=Eur. J. Hum. Genet. |volume=9 |issue= 11 |pages= 811–4 |year= 2002 |pmid= 11781696 |doi= 10.1038/sj.ejhg.5200721
*cite journal | author=Hanai J, Dhanabal M, Karumanchi SA, "et al." |title=Endostatin causes G1 arrest of endothelial cells through inhibition of cyclin D1. |journal=J. Biol. Chem. |volume=277 |issue= 19 |pages= 16464–9 |year= 2002 |pmid= 11815623 |doi= 10.1074/jbc.M112274200
*cite journal | author=Ergün S, Kilic N, Wurmbach JH, "et al." |title=Endostatin inhibits angiogenesis by stabilization of newly formed endothelial tubes. |journal=Angiogenesis |volume=4 |issue= 3 |pages= 193–206 |year= 2002 |pmid= 11911017 |doi=
*cite journal | author=Tomono Y, Naito I, Ando K, "et al." |title=Epitope-defined monoclonal antibodies against multiplexin collagens demonstrate that type XV and XVIII collagens are expressed in specialized basement membranes. |journal=Cell Struct. Funct. |volume=27 |issue= 1 |pages= 9–20 |year= 2002 |pmid= 11937714 |doi=

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