Reviewed April 2008
What is the official name of the HOXA13 gene?
The official name of this gene is “homeobox A13.”
HOXA13 is the gene's official symbol. The HOXA13 gene is also known by other names, listed below.
What is the normal function of the HOXA13 gene?
The HOXA13 gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the HOXA13 gene is called a transcription factor. The HOXA13 gene is part of a larger family of transcription factors called homeobox genes, which act during early embryonic development to control the formation of many body structures. Specifically, the HOXA13 protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urinary tract, and reproductive system.
The HOXA13 gene contains three areas where a protein building block (amino acid) called alanine is repeated multiple times. These stretches of alanines are known as polyalanine tracts or poly(A) tracts. The role of polyalanine tracts in normal HOXA13 function is unknown.
Does the HOXA13 gene share characteristics with other genes?
The HOXA13 gene belongs to a family of genes called homeobox (homeoboxes).
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 HOXA13 gene related to health conditions?
- hand-foot-genital syndrome - caused by mutations in the HOXA13 gene
At least 14 mutations in the HOXA13 gene have been found to cause hand-foot-genital syndrome. More than half of these mutations affect one of the polyalanine tracts in the HOXA13 gene. These mutations add extra alanines to these tracts, making them abnormally long and unstable. The resulting altered protein is degraded by the cell, so it is unavailable to regulate the activity of other genes during early development. These changes affect the development of the hands, feet, urinary tract, and reproductive system.
Other HOXA13 mutations result in the production of an abnormally short, nonfunctional version of the HOXA13 protein or change single amino acids in the protein. Mutations that substitute one amino acid for another amino acid may change the way the HOXA13 protein is folded. The altered protein may or may not function or bind to DNA normally. Mutations that result in an altered but functional HOXA13 protein may cause more severe signs and symptoms of hand-foot-genital syndrome than mutations that lead to a nonfunctional version of this protein.
- cancers - associated with the HOXA13 gene
Chromosomal rearrangements (translocations) involving the short (p) arm of chromosome 7 have been associated with rare cases of leukemia, a cancer of blood-forming cells. These translocations disrupt the region of chromosome 7 that contains several similar homeobox genes, including HOXA13.
Within cancer cells, researchers have found translocations between chromosome 7 and chromosome 11 in several people with leukemia. These rearrangements abnormally fuse part of HOXA13 or a similar gene on chromosome 7 to part of the NUP98 gene on chromosome 11. The protein produced from the fused gene probably signals abnormal cells to continue dividing without control or order, which likely contributes to the development of cancer.
Where is the HOXA13 gene located?
Cytogenetic Location: 7p15.2
Molecular Location on chromosome 7: base pairs 27,193,419 to 27,200,266
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/3209))
The HOXA13 gene is located on the short (p) arm of chromosome 7 at position 15.2.
More precisely, the HOXA13 gene is located from base pair 27,193,419 to base pair 27,200,266 on chromosome 7.
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 HOXA13?
You and your healthcare professional may find the following resources about HOXA13 helpful.
Educational resources - Information pages
- Developmental Biology (sixth edition, 2000): Hox genes and the specification of the proximal-distal axis (http://www.ncbi.nlm.nih.gov/books/NBK10102/)
- Genetic Science Learning Center, University of Utah: Genes Determine Body Patterns (http://learn.genetics.utah.edu/content/variation/hoxgenes/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1423)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for HOXA13 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3209%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=%28%28HOXA13%5BTIAB%5D%29%20OR%20%28HOX1J%5BTIAB%5D%29%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%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/142959)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_HOXA13.html)
- HGNC Gene Family: HOXL subclass homeoboxes (http://www.genenames.org/cgi-bin/genefamilies/set/518)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=5102)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3209)
What other names do people use for the HOXA13 gene or gene products?
- homeo box 1J
- homeo box A13
- homeobox protein HOXA13
- Homeobox protein Hox-A13
- transcription factor HOXA13
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 HOXA13?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T. Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15). Blood. 2002 Feb 15;99(4):1428-33. (http://www.ncbi.nlm.nih.gov/pubmed/11830496?dopt=Abstract)
- Gene Review: Hand-Foot-Genital Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1423)
- Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet. 2000 Jul;67(1):197-202. Epub 2000 Jun 5. (http://www.ncbi.nlm.nih.gov/pubmed/10839976?dopt=Abstract)
- Goodman FR, Scambler PJ. Human HOX gene mutations. Clin Genet. 2001 Jan;59(1):1-11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11206481?dopt=Abstract)
- Goodman FR. Limb malformations and the human HOX genes. Am J Med Genet. 2002 Oct 15;112(3):256-65. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12357469?dopt=Abstract)
- Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet. 2004 Nov 15;13(22):2841-51. Epub 2004 Sep 22. (http://www.ncbi.nlm.nih.gov/pubmed/15385446?dopt=Abstract)
- Mortlock DP, Innis JW. Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet. 1997 Feb;15(2):179-80. (http://www.ncbi.nlm.nih.gov/pubmed/9020844?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3209)
- Taketani T, Taki T, Ono R, Kobayashi Y, Ida K, Hayashi Y. The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9. Genes Chromosomes Cancer. 2002 Aug;34(4):437-43. (http://www.ncbi.nlm.nih.gov/pubmed/12112533?dopt=Abstract)
- Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? Hum Genet. 2002 May;110(5):488-94. Epub 2002 Apr 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12073020?dopt=Abstract)
- Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW. Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. Am J Med Genet A. 2007 Dec 15;143A(24):3161-8. (http://www.ncbi.nlm.nih.gov/pubmed/17935235?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.