Kaptin (actin binding protein) explained

Kaptin is a protein that in humans is encoded by the KPTN gene.^{[1] [2]}

Clinical

Mutations in this gene have been associated with a syndrome of acrocephaly, muscular hypotonia, global development delay, dyspraxia and hand-mouth synkinesia.^[3]

Further reading

• Bearer EL, Prakash JM, Li Z . Actin dynamics in platelets . International Review of Cytology . 217 . 137–82 . 2002 . 12019562 . 3376087 . 10.1016/S0074-7696(02)17014-8 . 9780123646217 .
• Bearer EL . An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells . The Journal of Neuroscience . 12 . 3 . 750–61 . March 1992 . 1372044 . 3376081 . 10.1523/jneurosci.12-03-00750.1992 .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL . 2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4 . Annals of Human Genetics . 64 . Pt 3 . 189–96 . May 2000 . 11409409 . 3376086 . 10.1046/j.1469-1809.2000.6430189.x .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . 6 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . January 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D . 6 . Large-scale mapping of human protein-protein interactions by mass spectrometry . Molecular Systems Biology . 3 . 1 . 89 . 2007 . 17353931 . 1847948 . 10.1038/msb4100134 .

Notes and References

1. Bearer EL, Abraham MT . 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear . European Journal of Cell Biology . 78 . 2 . 117–26 . February 1999 . 10099934 . 3376092 . 10.1016/s0171-9335(99)80013-2 .
2. Web site: Entrez Gene: KPTN kaptin (actin binding protein).
3. Lucena PH, Armani-Franceschi G, Bispo-Torres AC, Bandeira ID, Lucena MF, Maldonado I, Veiga MF, Miguel D, Lucena R . 6 . 2020 . KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report. . Am J Med Genet A . 182 . 4 . 762–767 . 10.1002/ajmg.a.61492 . 31999056 . 210945773 .