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Center for Nephrology and Metabolic Disorders
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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.


Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Modifiers of clinical glaucoma presentation
Knobloch syndrome 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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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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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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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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Iughetti P et al. (2001) A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.

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Karumanchi SA et al. (2001) Cell surface glypicans are low-affinity endostatin receptors.

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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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O'Reilly MS et al. (1997) Endostatin: an endogenous inhibitor of angiogenesis and tumor growth.

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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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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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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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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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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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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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Czeizel AE et al. (1992) The second report of Knobloch syndrome.

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Aldahmesh MA et al. (2013) No evidence for locus heterogeneity in Knobloch syndrome.

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Joyce S et al. (2010) Locus heterogeneity and Knobloch syndrome.

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Mahajan VB et al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

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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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Khaliq S et al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

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Shi H et al. (2007) Nucleolin is a receptor that mediates antiangiogenic and antitumor activity of endostatin.

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Keren B et al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

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Suzuki OT et al. (2005) How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

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Utriainen A et al. (2004) Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.

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Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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OMIM.ORG article

Omim 120328 external link

Orphanet article

Orphanet ID 120702 external link

NCBI article

NCBI 80781 external link

Wikipedia article

Wikipedia EN (Collagen,_type_XVIII,_alpha_1) external link
Update: Aug. 14, 2020
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