Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Collagen type XV, alpha 1

The COL18A1 gene encodes a collagen that like Collagen IV is common in basement membranes. Mutations may modify the clinical presentation of glaucomas.


Research Method Carrier testing
Turnaround 5 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



Huebner K et al. (1992) Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22.

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Connelly JJ et al. (2013) Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

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Rasi K et al. (2010) Collagen XV is necessary for modeling of the extracellular matrix and its deficiency predisposes to cardiomyopathy.

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Eklund L et al. (2001) Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice.

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Sasaki T et al. (2000) Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity.

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Ramchandran R et al. (1999) Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.

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Hägg PM et al. (1998) Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene.

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Hägg PM et al. (1997) Cloning of mouse type XV collagen sequences and mapping of the corresponding gene to 4B1-3. Comparison of mouse and human alpha 1 (XV) collagen sequences indicates divergence in the number of small collagenous domains.

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Hägg PM et al. (1997) Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney.

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Myers JC et al. (1996) Type XV collagen exhibits a widespread distribution in human tissues but a distinct localization in basement membrane zones.

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Muragaki Y et al. (1994) The human alpha 1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha 1(XVIII) collagen.

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Rehn M et al. (1994) Primary structure of the alpha 1 chain of mouse type XVIII collagen, partial structure of the corresponding gene, and comparison of the alpha 1(XVIII) chain with its homologue, the alpha 1(XV) collagen chain.

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Kivirikko S et al. (1994) Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene.

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Myers JC et al. (1992) Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region.

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NCBI article

NCBI 1306 external link

OMIM.ORG article

Omim 120325 external link

Wikipedia article

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