TLL1
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Template:Short description An Error has occurred retrieving Wikidata item for infobox Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.[1][2]
This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites.[2]
In clinical context, TLL1 was mostly associated with atrial septal defect in an autosomal dominant mode of inheritance of loss-of-function mutations.[3] However, functional studies have also linked its gain-of-function with mitral valve prolapse.[4]
References
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- ^ Page Module:Citation/CS1/styles.css has no content.Scott IC, Clark TG, Takahara K, Hoffman GG, Eddy RL, Haley LL, Shows TB, Greenspan DS (Oct 1999). "Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32→q33 and 10q23→q24 and assignment of murine Tll2 to chromosome 19". Cytogenet Cell Genet. 86 (1): 64–65. doi:10.1159/000015412. PMID 10516436. S2CID 42081614.
- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: TLL1 tolloid-like 1".
- ^ Page Module:Citation/CS1/styles.css has no content.Sieron, L.; Lesiak, M.; Schisler, I.; Drzazga, Z.; Fertala, A.; Sieron, A. L. (2019). "Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6". Bioscience Reports. 39 (1) BSR20180270. doi:10.1042/BSR20180270. PMC 6328869. PMID 30538173.
- ^ Page Module:Citation/CS1/styles.css has no content.Agam, N.; Dolgin, V.; Star, A.; Freund, O.; Jean, M. M.; Safran, A.; Poleg, T.; Zahger, D.; Birk, O. S. (2025). "Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation". The Canadian Journal of Cardiology. 41 (5): 928–935. doi:10.1016/j.cjca.2025.01.018. PMID 39880331.
Further reading
Page Template:Refbegin/styles.css has no content.
- Page Module:Citation/CS1/styles.css has no content.Takahara K, Brevard R, Hoffman GG, et al. (1997). "Characterization of a novel gene product (mammalian tolloid-like) with high sequence similarity to mammalian tolloid/bone morphogenetic protein-1". Genomics. 34 (2): 157–165. doi:10.1006/geno.1996.0260. PMID 8661043.
- Page Module:Citation/CS1/styles.css has no content.Scott IC, Blitz IL, Pappano WN, et al. (1999). "Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis". Dev. Biol. 213 (2): 283–300. doi:10.1006/dbio.1999.9383. PMID 10479448.
- Page Module:Citation/CS1/styles.css has no content.Scott IC, Imamura Y, Pappano WN, et al. (2000). "Bone morphogenetic protein-1 processes probiglycan". J. Biol. Chem. 275 (39): 30504–30511. doi:10.1074/jbc.M004846200. PMID 10896944.
- Page Module:Citation/CS1/styles.css has no content.Uzel MI, Scott IC, Babakhanlou-Chase H, et al. (2001). "Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures". J. Biol. Chem. 276 (25): 22537–22543. doi:10.1074/jbc.M102352200. PMID 11313359.
- Page Module:Citation/CS1/styles.css has no content.Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Page Module:Citation/CS1/styles.css has no content.Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
- Page Module:Citation/CS1/styles.css has no content.Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Page Module:Citation/CS1/styles.css has no content.Ge G, Zhang Y, Steiglitz BM, Greenspan DS (2006). "Mammalian tolloid-like 1 binds procollagen C-proteinase enhancer protein 1 and differs from bone morphogenetic protein 1 in the functional roles of homologous protein domains". J. Biol. Chem. 281 (16): 10786–10798. doi:10.1074/jbc.M511111200. PMID 16507574.
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