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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)