- TRPS1
Trichorhinophalangeal syndrome I, also known as TRPS1, is a human
gene .cite journal | author = Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF, Chinault C, Horsthemke B, Wagner MJ, Wells DE | title = 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) | journal = Genomics | volume = 29 | issue = 1 | pages = 87–97 | year = 1995 | month = September | pmid = 8530105 | doi = 10.1006/geno.1995.1218 | url = | issn = ] cite journal | author = Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B | title = Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 | journal = Hum. Genet. | volume = 105 | issue = 6 | pages = 619–28 | year = 1999 | month = December | pmid = 10647898 | doi = 10.1007/s004390051154 | url = | issn = ] cite journal | author = 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 | title = Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I | journal = Nat. Genet. | volume = 24 | issue = 1 | pages = 71–4 | year = 2000 | month = January | pmid = 10615131 | doi = 10.1038/71717 | url = | issn = ]This gene encodes a GATA-like
transcription factor that represses GATA-regulated genes and binds to adynein 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 theLanger-Giedion syndrome ).cite web | title = Entrez Gene: Trichorhinophalangeal syndrome I| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7227| accessdate = ]References
Further reading
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*cite journal | author=Chang GT, van den Bemd GJ, Jhamai M, Brinkmann AO |title=Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene. |journal=Apoptosis |volume=7 |issue= 1 |pages= 13–21 |year= 2002 |pmid= 11773701 |doi=External links
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