Collagen type XVIII, alpha 1
The COL18A1 gene encodes a collagen that like Collagen IV is common in basement membranes. Mutations cause autosomal recessive Knobloch syndrome and may modify the clinical presentation of glaucomas.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Menzel O et al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
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2. |
Marneros AG et al. (2003) Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.
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3. |
Sudhakar A et al. (2003) Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.
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4. |
Suzuki OT et al. (2002) Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
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5. |
Iughetti P et al. (2001) A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.
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6. |
Karumanchi SA et al. (2001) Cell surface glypicans are low-affinity endostatin receptors.
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7. |
Saarela J et al. (1998) Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.
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8. |
O'Reilly MS et al. (1997) Endostatin: an endogenous inhibitor of angiogenesis and tumor growth.
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9. |
Rehn M et al. (1996) Characterization of the mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) reveals that the three variant N-terminal polypeptide forms are transcribed from two widely separated promoters.
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10. |
Oh SP et al. (1994) 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.
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11. |
Rehn M et al. (1994) Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen.
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12. |
Oh SP et al. (1994) Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins.
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13. |
O'Reilly MS et al. (1994) Angiostatin: a novel angiogenesis inhibitor that mediates the suppression of metastases by a Lewis lung carcinoma.
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14. |
Sertié AL et al. (2000) 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).
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15. |
Czeizel AE et al. (1992) The second report of Knobloch syndrome.
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16. |
Aldahmesh MA et al. (2013) No evidence for locus heterogeneity in Knobloch syndrome.
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17. |
Joyce S et al. (2010) Locus heterogeneity and Knobloch syndrome.
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18. |
Mahajan VB et al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
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19. |
Paisán-Ruiz C et al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.
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20. |
Khaliq S et al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
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21. |
Shi H et al. (2007) Nucleolin is a receptor that mediates antiangiogenic and antitumor activity of endostatin.
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22. |
Keren B et al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
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23. |
Suzuki OT et al. (2005) How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
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24. |
Utriainen A et al. (2004) Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.
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25. |
Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
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26. |
OMIM.ORG article
Omim 120328
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27. |
Orphanet article
Orphanet ID 120702
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28. |
NCBI article
NCBI 80781
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29. |
Wikipedia article
Wikipedia EN (Collagen,_type_XVIII,_alpha_1)
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Update: Aug. 14, 2020