TBX15: Difference between revisions
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=Introduction= | =Introduction= | ||
TBX15 is implicated in Cousin syndrome. Cousin syndrome was first discovered in humans. Tbx15 deficiency in mice were isolated, and were seen to have similar symptoms. DNA of two girls with Cousin syndrome were searched directly for TBX15 deficiency or mutations and two related mutations were discovered. The mutant mRNA was present at a level same or higher than that of wild-type mRNA, and the expressed protein had a lower stability than the wild-type TBX15. | '''TBX15''' is implicated in Cousin syndrome. Cousin syndrome was first discovered in humans. Tbx15 deficiency in mice were isolated, and were seen to have similar symptoms. DNA of two girls with Cousin syndrome were searched directly for TBX15 deficiency or mutations and two related mutations were discovered. The mutant mRNA was present at a level same or higher than that of wild-type mRNA, and the expressed protein had a lower stability than the wild-type TBX15. | ||
=Functions and pathways of TBX15= | =Functions and pathways of TBX15= | ||
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It is possible, but not confirmed, that dominant mutations in the T-box region of TBX15 may correspond to a Kosenow syndrome phenotype, a candidate disease. | It is possible, but not confirmed, that dominant mutations in the T-box region of TBX15 may correspond to a Kosenow syndrome phenotype, a candidate disease. | ||
=3D Structures= | |||
[[T-box proteins]] | |||
=Additional Resources= | |||
For additional information, see: [[Transcription and RNA Processing]] | |||
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