This genomic element is located approximately 36 kb from the 3\' end of the SHOX2 (short stature homeobox 2) gene on chromosome 3. It includes two sub-regions, hs1251 and hs1262, that function as enhancers based on activation of a Hsp68 promoter coupled to a LacZ reporter gene in embryonic neural tissue and/or limb of transgenic mice. This region is orthologous to the mouse limb hindbrain (LHB) control region, which is necessary for Shox2 gene expression in mouse embryo limb and hindbrain. An ultraconserved sub-region of the hs1251 human enhancer is also homologous to part of the conserved non-coding element 5 (CNE5) neural enhancer found downstream of the paralogous SHOX (short stature homeobox) gene in the pseudoautosomal region of chromosomes X and Y, and it thus represents a duplicated conserved non-coding element (dCNE). [provided by RefSeq, Jun 2019]
