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NM_000522

NM_008264

RefSeq (protein)

NP_000513

NP_032290

Location (UCSC) Chr 7: 27.19 – 27.2 Mb Chr 6: 52.26 – 52.26 Mb PubMed search [3] [4] Wikidata
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Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.[5][6][7]

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.[7]

Clinical significance

Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome , also known as hand-foot-uterus syndrome.[8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106031 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038203 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146. 
  6. ^ Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459. 
  7. ^ a b "Entrez Gene: HOXA13 homeobox A13". 
  8. ^ Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle. 

Further reading

External links

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