Humpath.com - Human pathology

Home > A. Molecular pathology > TRPS1

TRPS1

MIM.604386 Entrez:7227

Tuesday 22 September 2015

WKP

Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene. 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.

Pathology

- gerline mutations

  • Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III (also known as the Langer-Giedion syndrome).

- osteosarcoma

  • Overexpression of Trps1 contributes to tumor angiogenesis and poor prognosis of human osteosarcoma. (26377811 )

Open references

- Overexpression of Trps1 contributes to tumor angiogenesis and poor prognosis of human osteosarcoma. Li Z, Jia M, Wu X, Cui J, Pan A, Li L. Diagn Pathol. 2015 Sep 17;10(1):167. doi : 10.1186/s13000-015-0401-2 PMID: 26377811