WA-8 |
Waardenburg-Shah syndrome 4 |
PAMP-12 |
||
The Wa antigen has been identified originally in patients with progressive systemic sclerosis. Anti-Wa antibodies found in these patients react with a 48 kDa protein associated with tRNA and precipitate the same protein in calf thymus extract and supernatant of pig spleen homogenate (Miyachi et al, 1991). Shiray et al (2001) have cloned the corresponding cDNA, showing it to encode nucleobindin-2, suggesting a function in the secretion of proteins along with calcium metabolism and in protein translation by tRNA binding. Imura et al (2012) have demonstrated that the Wa antigen is identical with NEFA, which has been renamed nucleobindin-2. Wa antigen may bind at least six different tRNA species. In
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