Function
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression.
Biological Context
Subcellular Location: Nucleus
Disease Association: Stolerman neurodevelopmental syndrome (NEDSST) : An autosomal dominant disorder characterized by global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features including a prominent nasal bridge and coarse features. Some patients manifest autism spectrum disorder. Musculoskeletal features may be present and include widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Lysine-specific demethylase 6B (KDM6B), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1530-1682aa, with C-terminal 6xHis-tagged tag, molecular weight 23.9kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
