他名称VISTA enhancer hs2496; ZPA-specific enhancer; ZRS limb enhancer; ZRS/SHH enhancer; mammal-fish-conserved-sequence 1; zone of polarizing activity regulatory sequence
遺伝子の種類biological-region
要約
This locus represents a highly conserved functional element that is located in an intron of the limb development membrane protein 1 (LMBR1) gene. In the developing limb bud, this element functions as a long-range enhancer of the sonic hedgehog signaling molecule (SHH) gene, which is located approximately 1 Mb downstream. Mutations in this element disrupt limb patterning and can result in a range of congenital limb malformations, including preaxial polydactyly, triphalangeal thumbs, Werner mesomelic syndrome (WMS), polysyndactyly, or Laurin-Sandrow syndrome. [provided by RefSeq, Feb 2019]
