Collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
The COL4A3BP gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. How this kinase is involved in the pathogenesis of Goodpasture syndrome remains to be clarified.
Genetests:
Related Diseases:
References:
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Raya A et al. (1999) Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen.
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2. |
Hanada K et al. (2003) Molecular machinery for non-vesicular trafficking of ceramide.
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3. |
NCBI article
NCBI 10087
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4. |
OMIM.ORG article
Omim 604677
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5. |
Wikipedia article
Wikipedia EN (COL4A3BP)
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Update: Aug. 14, 2020