KPTN, Official Symbol KPTNprovided by HGNC Official Full Name kaptin, actin binding proteinprovided by HGNC Primary source HGNC:HGNC:6404 See related Ensembl:ENSG00000118162 MIM:615620; AllianceGenome:HGNC:6404 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 2E4; KICS4; MRT41 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 1.7), testis (RPKM 1.7) and 25 other tissues See more Orthologs mouse all