Tricho-rhino-phalangeal syndrome Type 1

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Trichorhinophalangeal syndrome I
Symbols TRPS1 ; GC79; LGCR
External IDs OMIM604386 HomoloGene8556 GeneCards: TRPS1 Gene
Species Human Mouse
Entrez 7227 83925
Ensembl ENSG00000104447 ENSMUSG00000038679
UniProt Q9UHF7 Q925H1
RefSeq (mRNA) NM_001282902 NM_032000
RefSeq (protein) NP_001269831 NP_114389
Location (UCSC) Chr 8:
115.41 – 115.81 Mb
Chr 15:
50.65 – 50.89 Mb
PubMed search [1] [2]

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]


  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[edit]

  • 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[edit]

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