Aliases for CNE4 Gene
- CNE4 Enhancer Downstream Of SHOX 3
External Ids for CNE4 Gene
- Entrez Gene: 108383234
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 94 kb downstream 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. 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 CNE4 Gene
CNE4 (CNE4 Enhancer Downstream Of SHOX) is an Uncategorized gene. Diseases associated with CNE4 include Langer Mesomelic Dysplasia.