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identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2 (show C1orf84 Proteins), and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells
We have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures.
May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation.
, actin-binding protein
, actin-associated protein 2E4
, kaptin (actin-binding protein)