Tricho-rhino-phalangeal syndrome Type 1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
TRPS1
Identifiers
Aliases TRPS1, GC79, LGCR, transcriptional repressor GATA binding 1
External IDs MGI: 1927616 HomoloGene: 8556 GeneCards: 7227
Genetically Related Diseases
Disease Name References
major depressive disorder
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282902
NM_001282903
NM_014112

NM_032000
NM_001310481
NM_001310485

RefSeq (protein)

NP_001269831.1
NP_001269832.1
NP_054831.2

n/a

Location (UCSC) Chr 8: 115.41 – 115.81 Mb Chr 15: 50.65 – 50.89 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

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[edit]

  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.