Biology:Tricho-rhino-phalangeal syndrome Type 1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
- ↑ "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. doi:10.1006/geno.1995.1218. PMID 8530105.
- ↑ "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. doi:10.1038/71717. PMID 10615131.
- ↑ "Genes and chromosomal breakpoints in the Langer–Giedion syndrome region on human chromosome 8". Human Genetics 105 (6): 619–28. Dec 1999. doi:10.1007/s004390051154. PMID 10647898.
- ↑ "Entrez Gene: Trichorhinophalangeal syndrome I". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7227.
Further reading
- "Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene". Apoptosis 7 (1): 13–21. Feb 2002. doi:10.1023/A:1013504710343. PMID 11773701.
External links
- TRPS1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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