Identification of CTDSP2 and its homologous gene ctdsp2 in zebrafish: (A) Schematic representation of CTDSP2 sequence variants in families with hemifacial microsomia. The variant c.C332A:p.T111N was identified in probands with sporadic hemifacial microsomia (black), but it was absent in their unaffected parents (blank). Protein structure predictions suggest significant changes from the wildtype (bottom-left image, left: wildtype CTDSP2; right: mutant type), and pathway analysis indicates an interaction between CTDSP2 and the TGF-β pathway. (B) BLAST analysis reveals sequence homology and conserved domain characteristics of zebrafish ctdsp2, which is homologous to human CTDSP2. (C) The expression profile of zebrafish ctdsp2, as determined by the Spatial Transcript Omics DataBase, shows dynamic expression patterns during embryonic development.
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