TBC1 domain family member 32 (TBC1D32)

TBC1 domain family member 32 (TBC1D32), also known as BROMI or protein broad-minded, is a protein encoded by the TBC1D32 gene and is required for high-level Sonic Hedgehog (Shh) pathway activity during neural development[3]. It is a key regulator of cilium structure and function, acting through its interaction with CDK20 to ensure proper assembly of the ciliary axoneme and membrane, processes that are necessary for the activation of GLI2 in Shh signaling[3]. TBC1D32 is classified as a ciliopathy-associated protein, and mutations in this gene are responsible for a severe, autosomal recessive phenotype involving congenital hypopituitarism, midline developmental brain anomalies, craniofacial dysmorphism, limb defects (such as polydactyly), cleft palate, and other syndromic features seen in orofacial digital syndromes[1][2][3]. Primary cilium dysfunction caused by TBC1D32 loss-of-function variants leads to highly variable, often severe congenital disorders diagnosed as ciliopathies, contributing to pituitary development disorders and associated hormone deficiencies[1][2]. There are no known drugs that directly interact with TBC1D32, and it is not currently considered a druggable therapeutic target.

Other names

Protein broad-mindedBROMIC6orf170C6orf171FLJ30899dJ310J6.1FLJ34235bA57L9.1RP100protein broad-mindedbroad-minded homolog