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KPTN

Official Full Name
kaptin, actin binding protein
Organism
Homo sapiens
GeneID
11133
Background
This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]
Synonyms
2E4; KICS4; MRT41;

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