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Target intelligence / Profile preview
Primary cilium assembly protein FAM149B1 (FAM149B1)
- Target
- FAM149B1
- Molecular classification
- Other (protein-coding gene)
01
Overview
Primary cilium assembly protein FAM149B1 (abbreviated as FAM149B1) is a protein that plays a critical role in the localization of proteins to the primary cilium and the assembly of the cilium itself. It is essential for the proper regulation of the signaling functions of the cilium, particularly being required for normal sonic hedgehog (SHH)/smoothened signaling and proper development. Loss of function in this gene is implicated in developmental disorders such as Joubert syndrome 36 and oro-facio-digital syndrome VI. The gene is not currently known as a classical drug or therapeutic target, nor are there any reported drugs or biomarkers directly associated with it.
- Other names
- Family with sequence similarity 149 member B1FAM149B1KIAA0974JBTS36
02
Biological functions
Protein localization to the primary ciliumCilium assemblyRegulation of ciliary signaling (including sonic hedgehog/smoothened signaling)
03
Disease associations
Joubert syndrome 36Orofaciodigital syndrome VI
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