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Gene Review:

Tfe3 - transcription factor E3

Mus musculus

Synonyms: AI851540, F830016E06Rik, Tcfe3, Tfe-3, Transcription factor E3, ...

Steingrimsson, E. et al., Takemoto, C.M. et al., Roman, C. et al., Blair, P.J. et al.

Takemoto, Yoon, Fisher,

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Disease relevance of Tcfe3

Although osteoclasts seem normal in Mitf or Tfe3 null mice, the combined loss of the two genes results in severe osteopetrosis [1].

High impact information on Tcfe3

Transcription factor E3 (mTFE3) is a murine transcription activator that binds to the intronic enhancer of the immunoglobulin heavy chain gene [2].
Here, we uncover a role for Tfe3 in osteoclast development, a role that is functionally redundant with Mitf [1].
Moreover, Mitf-mc heterodimerizes with a closely related transcription factor, Tfe3, and dominantly inhibits the ability of Tfe3 to transactivate a melanocyte-specific promoter [3].
The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X chromosome [4].

References

Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Steingrimsson, E., Tessarollo, L., Pathak, B., Hou, L., Arnheiter, H., Copeland, N.G., Jenkins, N.A. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
A dominant negative form of transcription activator mTFE3 created by differential splicing. Roman, C., Cohn, L., Calame, K. Science (1991) [Pubmed]
The identification and functional characterization of a novel mast cell isoform of the microphthalmia-associated transcription factor. Takemoto, C.M., Yoon, Y.J., Fisher, D.E. J. Biol. Chem. (2002) [Pubmed]
The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X chromosome. Blair, P.J., Carpenter, D.A., Godfrey, V.L., Russell, L.B., Wilkinson, J.E., Rinchik, E.M. Mamm. Genome (1994) [Pubmed]

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TFE3	Bos taurus
TFE3	Canis lupus familiaris
tfe3a	Danio rerio
tfe3b	Danio rerio
TFE3	Homo sapiens
TFE3	Macaca mulatta
LOC473871	Pan troglodytes
Tfe3	Rattus norvegicus

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