TMEM161B

Phenotypes

Human ciliopathy phenotype:

Polymicrogyria; disordered cortical folding; impaired Sonic Hedgehog signaling; abnormal ventricular-zone cilia

Ciliopathy associations

• Polymicrogyria

References: PMID:36669111

Subcellular localization

primary cilium

References: doi:10.1073/pnas.2209964120

Function

TMEM161B is a multi-pass transmembrane protein that localizes non-exclusively to the primary cilium and regulates cerebral cortical gyration and Sonic Hedgehog signaling. Biallelic deleterious variants cause polymicrogyria. Tmem161b-null mice show holoprosencephaly and CNS midline/patterning defects; ventricular-zone cilia are shortened, dysmorphic, and ballooned, and cells show an impaired response to Smoothened activation, indicating the Shh-related phenotypes reflect ciliary dysfunction (Akula et al., 2023, PNAS).