MLST8

Chr 16

MTOR associated protein MLST8

Also known as: GBL, GbetaL, LST8, POP3, WAT1

NCBI Gene: 64223 ENSG00000167965 UniProt: Q9BVC4 OMIM: 612190

MLST8 encodes a subunit of both mTORC1 and mTORC2 complexes that regulates cell growth, survival, and cytoskeletal organization in response to nutrient and hormonal signals by enhancing mTOR kinase activity. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and growth abnormalities. The gene shows low constraint to loss-of-function variants (pLI = 0.008), consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein serine/threonine kinase activator activity and protein-macromolecule adaptor activity. Contributes to protein serine/threonine kinase activity. Involved in TOR signaling; positive regulation of TOR signaling; and regulation of actin cytoskeleton organization. Part of TORC1 complex and TORC2 complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.67

LOEUF

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Mechanism