ANKRD17
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Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene.[5][6]
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.[6]
De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome.[7] Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000132466 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055204 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Watt AJ, Jones EA, Ure JM, Peddie D, Wilson DI, Forrester LM (February 2001). "A gene trap integration provides an early in situ marker for hepatic specification of the foregut endoderm". Mechanisms of Development. 100 (2): 205–215. doi:10.1016/S0925-4773(00)00530-X. PMID 11165478. S2CID 18601209.
- ^ a b "Entrez Gene: ANKRD17 ankyrin repeat domain 17".
- ^ "CHOPRA-AMIEL-GORDON SYNDROME; CAGS". www.omim.org. Retrieved 2022-12-06.
- ^ Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, et al. (June 2021). "Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism". American Journal of Human Genetics. 108 (6): 1138–1150. doi:10.1016/j.ajhg.2021.04.007. PMC 8206162. PMID 33909992.
External links
- Human ANKRD17 genome location and ANKRD17 gene details page in the UCSC Genome Browser.
Further reading
- Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, et al. (June 1998). "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. doi:10.1093/dnares/5.3.169. PMID 9734811.
- Jones EA, Tosh D, Wilson DI, Lindsay S, Forrester LM (January 2002). "Hepatic differentiation of murine embryonic stem cells". Experimental Cell Research. 272 (1): 15–22. doi:10.1006/excr.2001.5396. PMID 11740861.
- Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO, et al. (March 2001). "Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression". Cancer Immunity. 1: 4. PMID 12747765.
- Poulin F, Brueschke A, Sonenberg N (December 2003). "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK". The Journal of Biological Chemistry. 278 (52): 52290–52297. doi:10.1074/jbc.M310761200. PMID 14557257.
- Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "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. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
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