Aliases for LOC110121292 Gene
External Ids for LOC110121292 Gene
- Entrez Gene: 110121292
This genomic region represents a conserved exonic enhancer corresponding to a 3' exon (eExon 15) of the DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1) gene. It can activate a Hsp68 promoter coupled to a reporter gene in apical ectodermal ridge, limb bud mesenchyme and the genital tubercle of transgenic mice, and also an E1b promoter in pectoral fin, caudal fin and somatic muscle of transgenic zebrafish. This eExon is thought to be a tissue-specific limb enhancer of the DLX5 and DLX6 (distal-less homeobox 5 and 6) genes located over 900 kb telomeric on chromosome 7q21.3. Looping interactions have been observed between this eExon and the Dlx5/6 promoters in the mouse ortholog. Human chromosomal deletions that remove this eExon together with the nearby DYNC1I1 eExon 17 limb enhancer are associated with split-hand/split-foot malformation (SHFM), suggesting that these eExons are critical for normal limb development. [provided by RefSeq, Apr 2019]
GeneCards Summary for LOC110121292 Gene
LOC110121292 (EExon 15 DLX5/6 Limb Enhancer) is a Biological Region gene.