Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

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

Related Diseases:

Goodpasture syndrome
COL4A3
COL4A3BP
COL4A5

References:

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 [^]
4.

OMIM.ORG article

Omim 604677 [^]
5.

Wikipedia article

Wikipedia EN (COL4A3BP) [^]
Update: April 29, 2019