Difference between revisions of "YFL037W"
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− | '''Description of YFL037W:''' Beta-tubulin; associates with alpha-tubulin (Tub1p and Tub3p) to form tubulin dimer, which polymerizes to form microtubules<ref name='S000057282'>Neff NF, et al. (1983) Isolation of the beta-tubulin gene from yeast and demonstration of its essential function in vivo. Cell 33(1):211-9 | + | '''Description of YFL037W:''' Beta-tubulin; associates with alpha-tubulin (Tub1p and Tub3p) to form tubulin dimer, which polymerizes to form microtubules; mutation in human ortholog is associated with congenital fibrosis of the extraocular muscles (CFEOM) with polymicrogyria<ref name='S000151180'>Cederquist GY, et al. (2012) An inherited TUBB2B mutation alters a kinesin binding site and causes polymicrogyria, CFEOM, and axon dysinnervation. Hum Mol Genet () {{SGDpaper|S000151180}} PMID 23001566</ref><ref name='S000057282'>Neff NF, et al. (1983) Isolation of the beta-tubulin gene from yeast and demonstration of its essential function in vivo. Cell 33(1):211-9 |
{{SGDpaper|S000057282}} PMID 6380751</ref> | {{SGDpaper|S000057282}} PMID 6380751</ref> | ||
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Latest revision as of 13:05, 23 October 2012
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Systematic name | YFL037W |
Gene name | TUB2 |
Aliases | ARM10, SHE8 |
Feature type | ORF, Verified |
Coordinates | Chr VI:56336..57709 |
Primary SGDID | S000001857 |
Description of YFL037W: Beta-tubulin; associates with alpha-tubulin (Tub1p and Tub3p) to form tubulin dimer, which polymerizes to form microtubules; mutation in human ortholog is associated with congenital fibrosis of the extraocular muscles (CFEOM) with polymicrogyria[1][2]
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References
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- ↑ Cederquist GY, et al. (2012) An inherited TUBB2B mutation alters a kinesin binding site and causes polymicrogyria, CFEOM, and axon dysinnervation. Hum Mol Genet () SGD PMID 23001566
- ↑ Neff NF, et al. (1983) Isolation of the beta-tubulin gene from yeast and demonstration of its essential function in vivo. Cell 33(1):211-9 SGD PMID 6380751
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