Tricho-rhino-phalangeal syndrome Type 1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene.[1][2][3]

This gene encodes a GATA-like transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III (also known as the Langer-Giedion syndrome).[4]

References

  1. Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF (Sep 1995). "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. 29 (1): 87–97. doi:10.1006/geno.1995.1218. PMID 8530105.
  2. Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ (Jan 2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nature Genetics. 24 (1): 71–4. doi:10.1038/71717. PMID 10615131.
  3. Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B (Dec 1999). "Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619–28. doi:10.1007/s004390051154. PMID 10647898.
  4. "Entrez Gene: Trichorhinophalangeal syndrome I".

Further reading

  • Chang GT, van den Bemd GJ, Jhamai M, Brinkmann AO (Feb 2002). "Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene". Apoptosis. 7 (1): 13–21. doi:10.1023/A:1013504710343. PMID 11773701.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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