Reviewed November 2013
What is the official name of the THAP1 gene?
The official name of this gene is “THAP domain containing, apoptosis associated protein 1.”
THAP1 is the gene's official symbol. The THAP1 gene is also known by other names, listed below.
What is the normal function of the THAP1 gene?
The THAP1 gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes. Through this function, it is thought to help control several processes in the body, including the growth and division (proliferation) of endothelial cells, which line the inside surface of blood vessels and other circulatory system structures called lymphatic vessels. The THAP1 protein also plays a role in the self-destruction of cells that are no longer needed (apoptosis).
Does the THAP1 gene share characteristics with other genes?
The THAP1 gene belongs to a family of genes called THAP domain containing (THAP (C2CH-type zinc finger) domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the THAP1 gene related to health conditions?
- dystonia 6 - caused by mutations in the THAP1 gene
More than 70 THAP1 gene mutations have been identified in people with dystonia 6. Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts.
Most of the THAP1 gene mutations that cause dystonia 6 change single protein building blocks (amino acids) in the THAP1 protein or result in a premature stop signal that leads to an abnormally short protein. Studies indicate that many of the mutations affect the stability of the THAP1 protein, reducing the amount of functional THAP1 protein available for DNA binding. Others may impair the protein's ability to bind with the correct regions of DNA. Problems with DNA binding likely disrupt the proper regulation of gene activity, leading to the signs and symptoms of dystonia 6.
A particular THAP1 gene mutation is specific to a Mennonite population in the Midwestern United States in which dystonia 6 was first described. This mutation changes the DNA sequence in a region of the gene known as exon 2. Some researchers use the term DYT6 dystonia to refer to dystonia caused by this particular mutation, and the broader term THAP1 dystonia to refer to dystonia caused by any THAP1 gene mutation. In general, mutations affecting the region of the THAP1 protein that binds to DNA, including the mutation found in the Mennonite population, tend to result in more severe signs and symptoms than mutations affecting other regions of the protein.
Where is the THAP1 gene located?
Cytogenetic Location: 8p11.21
Molecular Location on chromosome 8: base pairs 42,836,674 to 42,843,331
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/55145))
The THAP1 gene is located on the short (p) arm of chromosome 8 at position 11.21.
More precisely, the THAP1 gene is located from base pair 42,836,674 to base pair 42,843,331 on chromosome 8.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about THAP1?
You and your healthcare professional may find the following resources about THAP1 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for THAP1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28THAP1%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201440%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/609520)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_THAP1.html)
- HGNC Gene Family: THAP domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/65)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=20856)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55145)
- Universal Mutation Database: THAP1 Mutations Database (http://www.umd.be/THAP1/)
What other names do people use for the THAP1 gene or gene products?
- nuclear proapoptotic factor
- THAP domain-containing protein 1
- THAP domain protein 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding THAP1?
endothelial cells ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, Béroud C, Collod-Béroud G. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21793105?dopt=Abstract)
- Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09)70081-X. Epub 2009 Apr 1. (http://www.ncbi.nlm.nih.gov/pubmed/19345147?dopt=Abstract)
- Campagne S, Muller I, Milon A, Gervais V. Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1. Nucleic Acids Res. 2012 Oct;40(19):9927-40. doi: 10.1093/nar/gks703. Epub 2012 Jul 27. (http://www.ncbi.nlm.nih.gov/pubmed/22844099?dopt=Abstract)
- Cheng FB, Ozelius LJ, Wan XH, Feng JC, Ma LY, Yang YM, Wang L. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol. 2012 Feb;259(2):342-7. doi: 10.1007/s00415-011-6196-5. Epub 2011 Jul 29. (http://www.ncbi.nlm.nih.gov/pubmed/21800139?dopt=Abstract)
- Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1. (http://www.ncbi.nlm.nih.gov/pubmed/19345148?dopt=Abstract)
- Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. (http://www.ncbi.nlm.nih.gov/pubmed/20211909?dopt=Abstract)
- LeDoux MS, Xiao J, Rudzińska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momčilović D, Vemula SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22377579?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55145)
- OMIM: THAP DOMAIN-CONTAINING PROTEIN 1 (http://omim.org/entry/609520)
- Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012 Sep 1;27(10):1290-4. doi: 10.1002/mds.25146. Epub 2012 Aug 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22903657?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.