KDM6A

This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

Lysine Demethylase 6A

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849).
Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849).
Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529).
Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849).
Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity).

Chromatin remodelingISS:UniProtKB
Heart developmentManual Assertion Based On ExperimentIBA:GO_Central
Histone H3-K27 demethylationManual Assertion Based On ExperimentIBA:GO_Central
Histone H3-K4 methylationBy SimilarityISS:UniProtKB
Regulation of gene expressionManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

Kabuki syndrome 2 (KABUK2):
A congenital mental retardation 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.