ANKRD17 explained

Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene.^{[1] [2]}

This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene.^[2]

De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome.^[3] Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.^[4]

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . September 1996 . 8889548 . 10.1101/gr.6.9.791 . free .
• Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . 6 . Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro . DNA Research . 5 . 3 . 169–176 . June 1998 . 9734811 . 10.1093/dnares/5.3.169 . free .
• Jones EA, Tosh D, Wilson DI, Lindsay S, Forrester LM . Hepatic differentiation of murine embryonic stem cells . Experimental Cell Research . 272 . 1 . 15–22 . January 2002 . 11740861 . 10.1006/excr.2001.5396 .
• Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO, Jäger D, Chen YT, Mackay A, O'Hare MJ, Old LJ . 6 . Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression . Cancer Immunity . 1 . 4 . March 2001 . 12747765 .
• Poulin F, Brueschke A, Sonenberg N . Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK . The Journal of Biological Chemistry . 278 . 52 . 52290–52297 . December 2003 . 14557257 . 10.1074/jbc.M310761200 . free .
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C, Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G, Neubauer G, Rick J, Kuster B, Superti-Furga G . 6 . A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway . Nature Cell Biology . 6 . 2 . 97–105 . February 2004 . 14743216 . 10.1038/ncb1086 . 11683986 .
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP . 6 . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proceedings of the National Academy of Sciences of the United States of America . 101 . 33 . 12130–12135 . August 2004 . 15302935 . 514446 . 10.1073/pnas.0404720101 . free . 2004PNAS..10112130B .

Notes and References

1. Watt AJ, Jones EA, Ure JM, Peddie D, Wilson DI, Forrester LM . A gene trap integration provides an early in situ marker for hepatic specification of the foregut endoderm . Mechanisms of Development . 100 . 2 . 205–215 . February 2001 . 11165478 . 10.1016/S0925-4773(00)00530-X . 18601209 . free .
2. Web site: Entrez Gene: ANKRD17 ankyrin repeat domain 17.
3. Web site: CHOPRA-AMIEL-GORDON SYNDROME; CAGS . 2022-12-06 . www.omim.org . en-us.
4. Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GM, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJ, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT . 6 . Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism . English . American Journal of Human Genetics . 108 . 6 . 1138–1150 . June 2021 . 33909992 . 8206162 . 10.1016/j.ajhg.2021.04.007 .