MOSMO

Chr 16

modulator of smoothened

Also known as: ATTHOG, BC030336, C16orf52

NCBI Gene: 730094 ENSG00000185716 UniProt: Q8NHV5

The protein acts as a negative regulator of hedgehog signaling by promoting internalization and degradation of smoothened protein in the ciliary membrane, and participates in sonic hedgehog-induced spinal neural progenitor cell differentiation. Mutations cause mosaic variegated aneuploidy syndrome, a rare disorder characterized by growth retardation, intellectual disability, microcephaly, and predisposition to cancer. The condition follows autosomal recessive inheritance.

GeneReviews ResearchSummary from UniProt

Predicted to be involved in negative regulation of smoothened signaling pathway; regulation of neuron differentiation; and regulation of protein stability. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic limb morphogenesis; and smoothened signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in Golgi apparatus and ciliary membrane. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.82

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — MOSMO