HOXA13

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Homeobox A13
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HOXA13 ; HOX1; HOX1J
External IDs OMIM142959 MGI96173 HomoloGene73882 GeneCards: HOXA13 Gene
RNA expression pattern
PBB GE HOXA13 gnf1h00031 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3209 15398
Ensembl ENSG00000106031 ENSMUSG00000038203
UniProt P31271 Q62424
RefSeq (mRNA) NM_000522 NM_008264
RefSeq (protein) NP_000513 NP_032290
Location (UCSC) Chr 7:
27.23 – 27.24 Mb
Chr 6:
52.26 – 52.26 Mb
PubMed search [1] [2]

Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.[1][2][3]

Function[edit]

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]

Clinical significance[edit]

Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome , also known as hand-foot-uterus syndrome.[4]

See also[edit]

References[edit]

  1. ^ McAlpine PJ, Shows TB (Aug 1990). "Nomenclature for human homeobox genes". Genomics 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146. 
  2. ^ Scott MP (Dec 1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459. 
  3. ^ a b "Entrez Gene: HOXA13 homeobox A13". 
  4. ^ Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle. 

Further reading[edit]

External links[edit]

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