TACSTD2: Difference between revisions
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*{{cite journal | author=Tsujikawa M, Kurahashi H, Tanaka T, ''et al.'' |title=Identification of the gene responsible for gelatinous drop-like corneal dystrophy. |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 420–3 |year= 1999 |pmid= 10192395 |doi= 10.1038/7759 }} |
*{{cite journal | author=Tsujikawa M, Kurahashi H, Tanaka T, ''et al.'' |title=Identification of the gene responsible for gelatinous drop-like corneal dystrophy. |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 420–3 |year= 1999 |pmid= 10192395 |doi= 10.1038/7759 }} |
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*{{cite journal | author=Nakamura T, Nishida K, Dota A, ''et al.'' |title=Gelatino-lattice corneal dystrophy: clinical features and mutational analysis. |journal=Am. J. Ophthalmol. |volume=129 |issue= 5 |pages= 665–6 |year= 2000 |pmid= 10844062 |doi=10.1016/S0002-9394(00)00369-X }} |
*{{cite journal | author=Nakamura T, Nishida K, Dota A, ''et al.'' |title=Gelatino-lattice corneal dystrophy: clinical features and mutational analysis. |journal=Am. J. Ophthalmol. |volume=129 |issue= 5 |pages= 665–6 |year= 2000 |pmid= 10844062 |doi=10.1016/S0002-9394(00)00369-X }} |
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*{{cite journal | author=Kinoshita S, Nishida K, Dota A, ''et al.'' |title=Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy. |journal=Cornea |volume=19 |issue= 4 |pages= 551–5 |year= 2000 |pmid= 10928776 |doi=10.1097/00003226-200007000-00029 }} |
*{{cite journal | author=Kinoshita S, Nishida K, Dota A, Abbie F''et al.'' |title=Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy. |journal=Cornea |volume=19 |issue= 4 |pages= 551–5 |year= 2000 |pmid= 10928776 |doi=10.1097/00003226-200007000-00029 }} |
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*{{cite journal | author=Tsujikawa M, Tsujikawa K, Maeda N, ''et al.'' |title=Rapid detection of M1S1 mutations by the protein truncation test. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 9 |pages= 2466–8 |year= 2000 |pmid= 10937555 |doi= }} |
*{{cite journal | author=Tsujikawa M, Tsujikawa K, Maeda N, ''et al.'' |title=Rapid detection of M1S1 mutations by the protein truncation test. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 9 |pages= 2466–8 |year= 2000 |pmid= 10937555 |doi= }} |
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*{{cite journal | author=Ha NT, Fujiki K, Hotta Y, ''et al.'' |title=Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. |journal=Am. J. Ophthalmol. |volume=130 |issue= 1 |pages= 119–20 |year= 2000 |pmid= 11004271 |doi=10.1016/S0002-9394(00)00596-1 }} |
*{{cite journal | author=Ha NT, Fujiki K, Hotta Y, ''et al.'' |title=Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. |journal=Am. J. Ophthalmol. |volume=130 |issue= 1 |pages= 119–20 |year= 2000 |pmid= 11004271 |doi=10.1016/S0002-9394(00)00596-1 }} |
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Revision as of 20:46, 6 November 2011
Template:PBB Tumor-associated calcium signal transducer 2 is a protein that in humans is encoded by the TACSTD2 gene.[1][2][3]
This intronless gene encodes a carcinoma-associated antigen defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane proteins. It transduces an intracellular calcium signal and acts as a cell surface receptor. Mutations of this gene result in gelatinous drop-like corneal dystrophy, an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness.[3]
References
- ^ Linnenbach AJ, Seng BA, Wu S, Robbins S, Scollon M, Pyrc JJ, Druck T, Huebner K (1993). "Retroposition in a family of carcinoma-associated antigen genes". Mol Cell Biol. 13 (3): 1507–15. PMC 359462. PMID 8382772.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Calabrese G, Crescenzi C, Morizio E, Palka G, Guerra E, Alberti S (2001). "Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization". Cytogenet Cell Genet. 92 (1–2): 164–5. doi:10.1159/000056891. PMID 11306819.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ a b "Entrez Gene: TACSTD2 tumor-associated calcium signal transducer 2".
Further reading
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