Biology:HOXA13
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
Clinical significance
Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome, also known as hand-foot-uterus syndrome.[4] Aberrant expression of HoxA13 gene products in the esophagus, provokes Barrett’s esophagus, a form of metaplasia that is a direct precursor to esophageal cancer.[5]
See also
References
- ↑ "Nomenclature for human homeobox genes". Genomics 7 (3): 460. Jul 1990. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
- ↑ "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. Nov 1992. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
- ↑ 3.0 3.1 "Entrez Gene: HOXA13 homeobox A13". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3209.
- ↑ Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene∂=hfg.
- ↑ "HOXA13 in etiology and oncogenic potential of Barrett's esophagus". Nature Communications 12 (1): 3354. Jun 2021. doi:10.1038/s41467-021-23641-8. PMID 34099670.
Further reading
- "Human HOX gene mutations". Clinical Genetics 59 (1): 1–11. Jan 2001. doi:10.1034/j.1399-0004.2001.590101.x. PMID 11206481.
- "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?". Human Genetics 110 (5): 488–94. May 2002. doi:10.1007/s00439-002-0712-8. PMID 12073020.
- "The human HOX gene family". Nucleic Acids Research 17 (24): 10385–402. Dec 1989. doi:10.1093/nar/17.24.10385. PMID 2574852.
- "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics 73 (1–2): 114–5. 1996. doi:10.1159/000134320. PMID 8646877.
- "Mutation of HOXA13 in hand-foot-genital syndrome". Nature Genetics 15 (2): 179–80. Feb 1997. doi:10.1038/ng0297-179. PMID 9020844.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (Nov 1998). "Toward a complete human genome sequence". Genome Research 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- "Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures". Biology of Reproduction 61 (6): 1402–8. Dec 1999. doi:10.1095/biolreprod61.6.1402. PMID 10569982.
- "Selection of homeotic proteins for binding to a human DNA replication origin". Journal of Molecular Biology 299 (3): 667–80. Jun 2000. doi:10.1006/jmbi.2000.3782. PMID 10835276.
- "Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome". American Journal of Human Genetics 67 (1): 197–202. Jul 2000. doi:10.1086/302961. PMID 10839976.
- "Functional specificity of the Hoxa13 homeobox". Development 128 (16): 3197–207. Aug 2001. doi:10.1242/dev.128.16.3197. PMID 11688568.
- "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 99 (4): 1428–33. Feb 2002. doi:10.1182/blood.V99.4.1428. PMID 11830496.
- "Complete mutation analysis panel of the 39 human HOX genes". Teratology 65 (2): 50–62. Feb 2002. doi:10.1002/tera.10009. PMID 11857506.
- "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome". Human Mutation 19 (5): 573–4. May 2002. doi:10.1002/humu.9036. PMID 11968094. https://deepblue.lib.umich.edu/bitstream/2027.42/35180/1/9036_ftp.pdf.
- "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 34 (4): 437–43. Aug 2002. doi:10.1002/gcc.10077. PMID 12112533.
- "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". Journal of Medical Genetics 39 (11): 852–6. Nov 2002. doi:10.1136/jmg.39.11.852. PMID 12414828.
External links
- GeneReviews/NCBI/NIH/UW entry on Hand-Foot-Genital Syndrome
- HOXA13+protein,+human at the US 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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