Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CD2-associated protein

In collaboration with the cell adhesion molecule, the protein encoded by the CD2AP gene initiates cytoskeletal polarization. Haploinsufficiency of this gene is associated with familial glomerulosclerosis 3.

Gene Structure

The gene CD2AP resides on chromosome 6 (Chr.6). Its size is 150.7kb. It contains 18 exons--all coding.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30 days
Specimen type genomic DNA

Related Diseases:

Hereditary FSGS type 3
CD2AP

References:

1.

Kim JM et al. (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility.

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2.

NCBI article

NCBI 23607 [^]
3.

OMIM.ORG article

Omim 604241 [^]
4.

Orphanet article

Orphanet ID 236656 [^]
5.

Wikipedia article

Wikipedia EN (CD2AP) [^]
Update: April 29, 2019