Zrs1 - zone of polarising activity regulatory sequence 1 Gene

This locus represents a highly conserved functional element that is located in an intron of the limb development membrane protein 1 gene. In the developing limb bud, this element functions as a long-range enhancer of the sonic Hedgehog (Shh) gene, which is located approximately 1 Mb downstream. Multiple transcription factor binding sites have been identified, and long-range looping interactions have been shown between this element and the Shh gene. Mutations in this element disrupt limb patterning in mice. In the orthologous human element, mutations can result in a range of congenital limb malformations, including preaxial polydactyly, triphalangeal thumbs, Werner mesomelic syndrome (WMS) and polysyndactyly. [provided by RefSeq, Feb 2019]