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Localization of ALK-1 within the cell seems to be determined by its fusion partner, leading to diffuse cytoplasmic staining for ALK-1 with TPM3, TPM4, CARS, and ATIC and SEC31L1 fusion partners (all of which are cytoplasmic proteins), nuclear staining with the RANBP2 fusion partner (encoding a nuclear pore protein), and granular cytoplasmic staining with the CLTC fusion partner (encoding a structural protein of coated vesicles).
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
The ALK gene rearrangements identified that have led to fusion with other genes include ATIC, (41) CARS, (61,62) TPM3, (63-65) TPM4, (63,65,66) TPM3 and TPM4, (67) CLTC, (60,65,68) RANBP2, (60,69) and SEC31L1 (SEC31A).
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