PAX3 has been identified with ear, eye and facial development. It transcribes a 479 amino acid protein in humans.
Mutations in it can cause Waardenburg syndrome. It is expressed in early embryonic
phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle
development since all myoblasts are derived from dermatomyotome of paraxial mesoderm. Interestingly, PAX3/FKHR fusion gene is
often found in some forms of rhabdomyosarcoma, a kind of cancer arisen from striated muscle cells.
External links
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Transcription factors and intracellular receptors |
| General transcription factors |
TFIIA, TFIIB, TFIID, TFIIE, TFIIF, TFIIH |
| Basic-helix-loop-helix |
AhR - BMAL-CLOCK -
E2F - HIF - Myc -
Pax (PAX3, PAX6) -
Twist - Myogenic regulatory
factors (MyoD, Myogenin, MYF5, MYF6) |
| Basic leucine zipper |
C/EBP
- CREB - AP-1 (c-Fos, c-Jun) - Activating
transcription factor |
| Basic helix-loop-helix leucine zipper |
MITF - SREBP |
| Nuclear receptors |
subfamily 1 (Thyroid hormone, CAR,
FXR, LXR, PPAR, PXR, RAR, ROR, Rev-ErbA, VDR) -
subfamily 2 (COUP-TF,
Ear-2, HNF4, PNR, RXR, Testicular receptor, TLX) -
subfamily 3/Steroid hormone (Estrogen, Estrogen related, Glucocorticoid, Mineralocorticoid,
Progesterone, Androgen) -
subfamily 4 (NGFIB, NURR1, NOR1) - subfamily
5 (SF1, LRH-1) -
subfamily 6 (GCNF) - subfamily 0 (DAX1, SHP) |
| Winged-helix transcription factors |
FOX
proteins (FOXP2, FOXP3) |
| Zinc finger/protein |
Gli1 - Gli2 - Gli3 - KlF (Sp1) - Zbtb7 - Zif268 |
| Other families |
CAP - CBF (RUNX1, RUNX2) - GATA
(GATA1) - NANOG - NF-kB -
Rho/Sigma - R-SMAD -
Sox2 - POU domain (PIT-1,
BRN-3, Octamer transcription factor:
2, 4) - STAT
(1, 2, 3, 4, 5, 6) |
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