Aliases for KDM6A Gene
- Lysine (K)-Specific Demethylase 6A 2 3
- Histone Demethylase UTX 3 4
- UTX 3 4
- BA386N14.2 (Ubiquitously Transcribed X Chromosome Tetratricopeptide Repeat Protein (UTX)) 3
- Ubiquitously-Transcribed X Chromosome Tetratricopeptide Repeat Protein 4
- Ubiquitously Transcribed Tetratricopeptide Repeat Protein X-Linked 3
- Ubiquitously Transcribed Tetratricopeptide Repeat, X Chromosome 2
External Ids for KDM6A Gene
Previous HGNC Symbols for KDM6A Gene
Previous GeneCards Identifiers for KDM6A Gene
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]
GeneCards Summary for KDM6A Gene
KDM6A (Lysine (K)-Specific Demethylase 6A) is a Protein Coding gene. Diseases associated with KDM6A include kdm6a-related kabuki syndrome and kabuki syndrome 2. Among its related pathways are Chromatin organization and Transcriptional misregulation in cancer. GO annotations related to this gene include identical protein binding and dioxygenase activity. An important paralog of this gene is UTY.
UniProtKB/Swiss-Prot for KDM6A Gene
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. 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.