Tricho-rhino-phalangeal syndrome Type 1 explained
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]
Further reading
- Chang GT, van den Bemd GJ, Jhamai M, Brinkmann AO . Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene . Apoptosis . 7 . 1 . 13–21 . Feb 2002 . 11773701 . 10.1023/A:1013504710343 . 21641267 .
Notes and References
- Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF . 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 . Sep 1995 . 8530105 . 10.1006/geno.1995.1218 .
- 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 . Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I . Nature Genetics . 24 . 1 . 71–4 . Jan 2000 . 10615131 . 10.1038/71717 . 21447066 .
- Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B . Genes and chromosomal breakpoints in the Langer–Giedion syndrome region on human chromosome 8 . Human Genetics . 105 . 6 . 619–28 . Dec 1999 . 10647898 . 10.1007/s004399900176 .
- Web site: Entrez Gene: Trichorhinophalangeal syndrome I.
