Aliases for CNE-2 Gene
- CNE-2 Enhancer Upstream Of SHOX 3
External Ids for CNE-2 Gene
- Entrez Gene: 108353832
This genomic element is found within the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, where each chromosome contains the same DNA region. It is located approximately 68 kb upstream of the SHOX (short stature homeobox) gene, and is one of several conserved elements that surround that gene. It can function as an enhancer of SHOX gene expression, and has been shown to form looping interactions with the SHOX promoter in 4C-seq assays. Mutations that include this element, including deletions and microduplications, are associated with Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS), and they have also been implicated in autism spectrum disorders (ASDs) and related neurodevelopmental conditions. [provided by RefSeq, Jul 2016]
GeneCards Summary for CNE-2 Gene
CNE-2 (CNE-2 Enhancer Upstream Of SHOX) is an Uncategorized gene. Diseases associated with CNE-2 include Langer Mesomelic Dysplasia.