TBX1: Difference between revisions
Helen Ginn (talk | contribs) →Insights into TBX1: minor edit |
Helen Ginn (talk | contribs) m →Functions and pathways of TBX1: minor edit |
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=Functions and pathways of TBX1= | =Functions and pathways of TBX1= | ||
TBX1 and CRKL | TBX1 and CRKL proteins interact in a dose dependent manner during development. In mice, Tbx1 activates the transcription of an Fgf10 promoter dependent on a T-box binding element (TBE). Fgf8 has also been postulated as a possible target of Tbx1. Transcription of TBX1 in humans depends on an enhancer with a forkhead binding site responsive to Foxc1, Foxc2 and Foxa2, but links in these pathways are uncertain. | ||
The molecular basis of dosage sensitivity is unknown, however it is thought that activation requires heterodimerisation but overexpression leads to homodimerisation. | The molecular basis of dosage sensitivity is unknown, however it is thought that activation requires heterodimerisation but overexpression leads to homodimerisation (producing an inactive transcription factor). | ||
=Known malfunctional mutations= | =Known malfunctional mutations= | ||