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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]
Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M (May 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?". Human Genetics. 110 (5): 488–94. doi:10.1007/s00439-002-0712-8. PMID12073020.
Post LC, Innis JW (Dec 1999). "Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures". Biology of Reproduction. 61 (6): 1402–8. doi:10.1095/biolreprod61.6.1402. PMID10569982.
de Stanchina E, Gabellini D, Norio P, Giacca M, Peverali FA, Riva S, Falaschi A, Biamonti G (Jun 2000). "Selection of homeotic proteins for binding to a human DNA replication origin". Journal of Molecular Biology. 299 (3): 667–80. doi:10.1006/jmbi.2000.3782. PMID10835276.
Zhao Y, Potter SS (Aug 2001). "Functional specificity of the Hoxa13 homeobox". Development. 128 (16): 3197–207. PMID11688568.
Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T (Feb 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. doi:10.1182/blood.V99.4.1428. PMID11830496.
Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (Feb 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID11857506.
Taketani T, Taki T, Ono R, Kobayashi Y, Ida K, Hayashi Y (Aug 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. PMID12112533.