This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17.[3]
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Piper DE, Batchelor AH, Chang CP, Cleary ML, Wolberger C (1999). "Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation". Cell. 96 (4): 587–97. doi:10.1016/S0092-8674(00)80662-5. PMID10052460.
Jungbluth S, Bell E, Lumsden A (1999). "Specification of distinct motor neuron identities by the singular activities of individual Hox genes". Development. 126 (12): 2751–8. PMID10331985.
Faiella A, Zortea M, Barbaria E, Albani F, Capra V, Cama A, Boncinelli E (1998). "A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online". Hum. Mutat. 12 (5): 363. PMID10671062.
Mikkola I, Bruun JA, Holm T, Johansen T (2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins". J. Biol. Chem. 276 (6): 4109–18. doi:10.1074/jbc.M008882200. PMID11069920.
Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM (2000). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders". Teratology. 62 (6): 393–405. doi:10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID11091361.
Di Rocco G, Gavalas A, Popperl H, Krumlauf R, Mavilio F, Zappavigna V (2001). "The recruitment of SOX/OCT complexes and the differential activity of HOXA1 and HOXB1 modulate the Hoxb1 auto-regulatory enhancer function". J. Biol. Chem. 276 (23): 20506–15. doi:10.1074/jbc.M011175200. PMID11278854.
Li J, Tabor HK, Nguyen L, Gleason C, Lotspeich LJ, Spiker D, Risch N, Myers RM (2002). "Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families". Am. J. Med. Genet. 114 (1): 24–30. doi:10.1002/ajmg.1618. PMID11840501.
Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID11857506.