MTSS1

Chr 8

MTSS I-BAR domain containing 1

Also known as: MIM, MIMA, MIMB

NCBI Gene: 9788 ENSG00000170873 UniProt: O43312

The MTSS1 protein binds actin monomers and regulates actin filament polymerization and bundling, playing important roles in cytoskeletal organization and cellular adhesion. Mutations cause autosomal dominant intellectual disability with developmental delay, and the gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.21). Additional features may include renal abnormalities and bone mineralization defects based on the protein's predicted roles in kidney development and magnesium homeostasis.

ResearchSummary from RefSeq, UniProt

Enables actin monomer binding activity; identical protein binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including adherens junction maintenance; positive regulation of actin filament bundle assembly; and renal tubule development. Predicted to act upstream of or within several processes, including actin filament polymerization; bone mineralization; and magnesium ion homeostasis. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

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)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429