Biology:Angiopoietin-related protein 7
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Angiopoietin-related protein 7 is a protein that in humans is encoded by the ANGPTL7 gene.[1][2][3]
It is one of the 8 angiopoietin-like proteins.[4]
Rare protein-altering variants in ANGPTL7, including p.Gln175His (0.007 minor allele frequency in Non-Finnish European population) and p.R220C (0.048 minor allele frequency in Finland), lower intraocular pressure and protect against glaucoma.[5]
References
- ↑ "Molecular cloning of a new angiopoietinlike factor from the human cornea". Invest Ophthalmol Vis Sci 39 (10): 1782–8. Sep 1998. PMID 9727400.
- ↑ "The angiopoietin-like factor cornea-derived transcript 6 is a putative morphogen for human cornea". J Biol Chem 277 (1): 686–93. Jan 2002. doi:10.1074/jbc.M105746200. PMID 11682471.
- ↑ "Entrez Gene: ANGPTL7 angiopoietin-like 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10218.
- ↑ Angiopoietin-like proteins: a comprehensive look
- ↑ Tanigawa, Yosuke; Wainberg, Michael; Karjalainen, Juha; Kiiskinen, Tuomo; Venkataraman, Guhan; Lemmelä, Susanna; Turunen, Joni A.; Graham, Robert R. et al. (5 May 2020). "Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma". PLOS Genetics 16 (5): e1008682. doi:10.1371/journal.pgen.1008682. PMID 32369491.
Further reading
- "Cloning and sequence analysis of candidate human natural killer-enhancing factor genes.". Immunogenetics 40 (2): 129–34. 1994. doi:10.1007/BF00188176. PMID 8026862.
- "The thiol-specific antioxidant protein from human brain: gene cloning and analysis of conserved cysteine regions.". Gene 140 (2): 279–84. 1994. doi:10.1016/0378-1119(94)90558-4. PMID 8144038.
- "The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.". Genes Immun. 2 (3): 119–27. 2001. doi:10.1038/sj.gene.6363745. PMID 11426320.
- "Signal peptide prediction based on analysis of experimentally verified cleavage sites.". Protein Sci. 13 (10): 2819–24. 2005. doi:10.1110/ps.04682504. PMID 15340161.
- "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
External links
- ANGPTL7 human gene location in the UCSC Genome Browser.
- ANGPTL7 human gene details in the UCSC Genome Browser.
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