Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.56
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.6
In clinical context, TLL1 was mostly associated with atrial septal defect in an autosomal dominant mode of inheritance of loss-of-function mutations.7 However, functional studies have also linked its gain-of-function with mitral valve prolapse.8
References
References
- GRCh38: Ensembl release 89: ENSG00000038295 – Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000053626 – 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.
- Scott IC, Clark TG, Takahara K, Hoffman GG, Eddy RL, Haley LL, et al. (October 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". Cytogenetics and Cell Genetics. 86 (1): 64–65. doi:10.1159/000015412. PMID 10516436. S2CID 42081614.
- "Entrez Gene: TLL1 tolloid-like 1".
- Sieron L, Lesiak M, Schisler I, Drzazga Z, Fertala A, Sieron AL (January 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.
- Agam N, Dolgin V, Star A, Freund O, Jean MM, Safran A, et al. (May 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
Further reading
- Takahara K, Brevard R, Hoffman GG, Suzuki N, Greenspan DS (June 1996). "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.
- Scott IC, Blitz IL, Pappano WN, Imamura Y, Clark TG, Steiglitz BM, et al. (September 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". Developmental Biology. 213 (2): 283–300. doi:10.1006/dbio.1999.9383. PMID 10479448.
- Scott IC, Imamura Y, Pappano WN, Troedel JM, Recklies AD, Roughley PJ, et al. (September 2000). "Bone morphogenetic protein-1 processes probiglycan". The Journal of Biological Chemistry. 275 (39): 30504–30511. doi:10.1074/jbc.M004846200. PMID 10896944.
- Uzel MI, Scott IC, Babakhanlou-Chase H, Palamakumbura AH, Pappano WN, Hong HH, et al. (June 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". The Journal of Biological Chemistry. 276 (25): 22537–22543. doi:10.1074/jbc.M102352200. PMID 11313359.
- 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". The Journal of Biological Chemistry. 281 (16): 10786–10798. doi:10.1074/jbc.M511111200. PMID 16507574.
