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Required for high-level Shh responses in the developing neural tube.
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study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 (show Sclt1 Antibodies) and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 (show Sclt1 Antibodies) and TBC1D32 in ciliopathy pathogenesis
Studies in mouse and zebrafish implicat (show TBC1D1 Antibodies)e that TBC1D32 is involved in sonic hedgehog signaling.
Bromi, a previously uncharacterized TBC (show TBC1D1 Antibodies) domain-containing protein, is required for proper cellular responses to the highest levels of Shh (show SHH Antibodies) signaling in the neural tube. (bromi, broad-minded)
Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling.
bA301B7.2 (novel protein)
, broad-minded homolog
, dJ310J6.1 (novel protein)
, protein broad-minded