Tricho-rhino-phalangeal syndrome Type 1

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Trichorhinophalangeal syndrome I
Identifiers
Symbols TRPS1 ; GC79; LGCR
External IDs OMIM604386 HomoloGene8556 GeneCards: TRPS1 Gene
Orthologs
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][1][2][2][3][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

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Further reading

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External links

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


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