TBC1D32

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Description

The TBC1D32 (TBC1 domain family member 32) is a protein-coding gene located on chromosome 6.

TBC1D32 is essential for strong Shh signaling responses during neural tube development. It collaborates with CDK20 to regulate the structure of the primary cilium by coordinating the assembly of the ciliary membrane and axoneme, enabling proper GLI2 activation in response to Shh signaling.

TBC1D32 is also known as BROMI, C6orf170, C6orf171.

Associated Diseases

• orofaciodigital syndrome
• orofaciodigital syndrome IX