HOXA13
Template:PBB Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.[1][2][3]
Function
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.[3]. Mutations in HOXA13 are known to be related to the Hand-Foot-Genital Syndrome <ref=Innis/> [4]
Clinical significance
Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome.[5]
See also
References
- ^ McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
{{cite journal}}: Unknown parameter|month=ignored (help) - ^ Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
{{cite journal}}: Unknown parameter|month=ignored (help) - ^ a b "Entrez Gene: HOXA13 homeobox A13".
- ^ Innis, Jeffrey W (2006). "Hand-Foot-Genital Syndrome". Gene Reviews. PMID 20301596.
- ^ Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle.
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Further reading
External links
- GeneReviews/NCBI/NIH/UW entry on Hand-Foot-Genital Syndrome
- HOXA13+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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