Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
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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