HOXA13
Homeobox A13 | |||||||||||
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Identifiers | |||||||||||
Symbols | HOXA13 ; HOX1; HOX1J | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 73882 | ||||||||||
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RNA expression pattern | |||||||||||
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Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Homeobox A13, also known as HOXA13, is a human gene.[1]
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. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome.[1]
See also
References
Further reading
- Goodman FR, Scambler PJ (2001). "Human HOX gene mutations". Clin. Genet. 59 (1): 1–11. PMID 11206481.
- Utsch B, Becker K, Brock D; et al. (2002). "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. 110 (5): 488–94. doi:10.1007/s00439-002-0712-8. PMID 12073020.
- Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. PMID 1358459.
- McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. PMID 1973146.
- Acampora D, D'Esposito M, Faiella A; et al. (1990). "The human HOX gene family". Nucleic Acids Res. 17 (24): 10385–402. PMID 2574852.
- Apiou F, Flagiello D, Cillo C; et al. (1996). "Fine mapping of human HOX gene clusters". Cytogenet. Cell Genet. 73 (1–2): 114–5. PMID 8646877.
- Mortlock DP, Innis JW (1997). "Mutation of HOXA13 in hand-foot-genital syndrome". Nat. Genet. 15 (2): 179–80. doi:10.1038/ng0297-179. PMID 9020844.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.
- Post LC, Innis JW (1999). "Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures". Biol. Reprod. 61 (6): 1402–8. PMID 10569982.
- de Stanchina E, Gabellini D, Norio P; et al. (2000). "Selection of homeotic proteins for binding to a human DNA replication origin". J. Mol. Biol. 299 (3): 667–80. doi:10.1006/jmbi.2000.3782. PMID 10835276.
- Goodman FR, Bacchelli C, Brady AF; et al. (2000). "Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome". Am. J. Hum. Genet. 67 (1): 197–202. PMID 10839976.
- Zhao Y, Potter SS (2001). "Functional specificity of the Hoxa13 homeobox". Development. 128 (16): 3197–207. PMID 11688568.
- Fujino T, Suzuki A, Ito Y; et al. (2002). "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. PMID 11830496.
- Kosaki K, Kosaki R, Suzuki T; et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
- Innis JW, Goodman FR, Bacchelli C; et al. (2002). "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome". Hum. Mutat. 19 (5): 573–4. doi:10.1002/humu.9036. PMID 11968094.
- Taketani T, Taki T, Ono R; et al. (2002). "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. doi:10.1002/gcc.10077. PMID 12112533.
- Debeer P, Bacchelli C, Scambler PJ; et al. (2002). "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". J. Med. Genet. 39 (11): 852–6. PMID 12414828.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
External links
- 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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