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.
The gene CD2AP resides on chromosome 6 (Chr.6). Its size is 150.7kb. It contains 18 exons--all coding.
Kim JM et al. (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility.
NCBI 23607 [^]
Omim 604241 [^]
Orphanet ID 236656 [^]
Wikipedia EN (CD2AP) [^]
Update: April 29, 2019