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Chromosome 2 open reading frame 49 (C2orf49)
- Target
- C2orf49
- Molecular classification
- Other (Developmental protein, protein of unknown function, belongs to ashwin family)
01
Overview
Chromosome 2 open reading frame 49 (C2orf49), also known as Ashwin, is a protein-coding gene in humans belonging to the ashwin family. Its protein product has no well-characterized function but is predicted to be part of the tRNA-splicing ligase complex, suggesting a role in tRNA processing and possibly RNA metabolism. Experimental data in Xenopus (frog) orthologs indicate that Ashwin is implicated in cell survival during neural development and in patterning of the embryo, with effects on apoptosis and tissue specification. In humans, it is localized to the nucleoplasm and associated (via datasets and interaction predictions) with RNA processing pathways. There is a weak disease association reported with aggressive systemic mastocytosis, but no established role as a therapeutic target, biomarker, or drug-interacting molecule[1][2][3][6][8].
- Other names
- AshwinMGC5509aswashwinGC02P105320GC02P105953GC02P099722
02
Biological functions
Cell survivalAnteroposterior patterningNeural development (in Xenopus)tRNA splicing/processingpossible involvement in apoptosis
03
Disease associations
Aggressive systemic mastocytosis (association noted, no direct mechanistic data)
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