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Normal Function
The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes. The TRPS1 protein is found within the cell nucleus where it interacts with specific regions of DNA to turn off (repress) gene activity. Based on this role, the TRPS1 protein is called a transcription factor. Research suggests that the TRPS1 protein plays a role in regulating genes that control the growth of bone and cartilage, a tough but flexible tissue that makes up much of the skeleton during early development.
Health Conditions Related to Genetic Changes
Trichorhinophalangeal syndrome type I
More than 130 mutations in the TRPS1 gene have been found to cause trichorhinophalangeal syndrome type I (TRPS I). TRPS I is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The mutations that cause this condition affect one copy of the TRPS1 gene in each cell.
Some of these mutations change single protein building blocks (amino acids) and have a "dominant-negative" effect, which means that the altered protein produced from one copy of the TRPS1 gene interferes with the function of the normal protein produced from the other copy of the gene. Other mutations add or delete small amounts of genetic material or alter the way the gene's instructions are used to make the protein. These changes have a "loss-of-function" effect and result in the production of a protein that cannot enter the cell nucleus where it is needed to bind to DNA and repress gene activity.
As a result of the protein's decreased ability to repress gene activity, particularly genes that regulate bone and cartilage growth, people with TRPS1 gene mutations develop abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS I.
More About This Health ConditionTrichorhinophalangeal syndrome type II
The TRPS1 gene is located in a region of chromosome 8 that is deleted in people with trichorhinophalangeal syndrome type II (TRPS II). TRPS II is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. As a result of this deletion, affected individuals are missing one copy of the TRPS1 gene in each cell and TRPS1 protein production is reduced by half. Researchers believe that this reduction in TRPS1 protein impairs the regulation of certain genes that control bone and cartilage growth, which contributes to short stature, abnormal bones in the fingers and toes, joint abnormalities, and distinctive facial features in people with TRPS II. The deletion of other genes near the TRPS1 gene likely contributes to the additional features of this condition.
More About This Health ConditionOther Names for This Gene
- GC79
- LGCR
- TRPS1_HUMAN
- zinc finger transcription factor TRPS1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Candamourty R, Venkatachalam S, Karthikeyan B, Babu MR. Trichorhinophalangeal syndrome type 1: A case report with literature review. J Nat Sci Biol Med. 2012 Jul;3(2):209-11. doi: 10.4103/0976-9668.101936. Citation on PubMed or Free article on PubMed Central
- Hilton MJ, Sawyer JM, Gutierrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 2002;47(3):103-6. doi: 10.1007/s100380200010. Citation on PubMed
- Maas SM, Shaw AC, Bikker H, Ludecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Gronborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Citation on PubMed
- Momeni P, Glockner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Ludecke HJ. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717. Citation on PubMed
- Tuysuz B, Gunes N, Alkaya DU. Trichorhinophalangeal Syndrome. 2017 Apr 20 [updated 2024 Mar 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK425926/ Citation on PubMed
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