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 131 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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CNE5-20-RE | 20 (40 μL) | 200 μL |  |
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| CNE5-20-OR | 20 (40 μL) | 200 μL |  |
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| CNE5-20-GO | 20 (40 μL) | 200 μL |  |
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| CNE5-20-GR | 20 (40 μL) | 200 μL |  |
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| CNE5-20-AQ | 20 (40 μL) | 200 μL |  |
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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 131 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]
Gene Symbol : CNE5
Gene Name : CNE5 enhancer downstream of SHOX
Chromosome : CHR X, Y: 0-0
Locus : Xp22.33; Yp11.3
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