TCF12

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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View/Edit Human

Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.[1][2]

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[2]

Mutations in this gene have been associated to cases of coronal craniosynostosis (doi: 10.1038/ng.2531)

References

  1. Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M (Oct 1991). "HTF4: a new human helix-loop-helix protein". Nucleic Acids Res. 19 (16): 4555. doi:10.1093/nar/19.16.4555. PMC 328652. PMID 1886779.
  2. 2.0 2.1 "Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)".

Further reading

External links