Function
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression.
Biological Context
Subcellular Location: Nucleus
Disease Association: Kabuki syndrome 2 (KABUK2) : A congenital intellectual disability syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Lysine-specific demethylase 6A (KDM6A), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1095-1258aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 26.2kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
