Aliases for LOC110121293 Gene
External Ids for LOC110121293 Gene
- Entrez Gene: 110121293
This genomic region represents a conserved exonic enhancer corresponding to a 3' exon (eExon 17) of the DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1) gene. It can activate a Hsp68promoter coupled to a reporter gene in anterior limb bud mesenchyme of transgenic mice. 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. Human chromosomal deletions that remove this eExon together with the nearby DYNC1I1 eExon 15 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 LOC110121293 Gene
LOC110121293 (EExon 17 DLX5/6 Limb Enhancer) is a Biological Region gene.