Vectors for Human LOC115253417

This genomic element, which is located in the intestine-critical region (ICR) of chromosome 16, overlaps the 5\' flanking region of the PERCC1 gene. It functions as an enhancer that activates expression of a minimal Hsp68 promoter in the stomach, pancreas and duodenum of E11.5-E14.5 transgenic mice. Deletions that encompass this element are associated with congenital diarrhea, suggesting that this element is active in the developing digestive system. Similar to the human phenotype, deletion of the orthologous mouse region results in disrupted intestinal function. [provided by RefSeq, Jul 2019]