KDM1B
Description
The KDM1B (lysine demethylase 1B) is a protein-coding gene located on chromosome 6.
KDM1B is a protein that in humans is encoded by the KDM1B gene. KDM1B is a flavin-dependent histone demethylase that plays a role in regulating histone lysine methylation, an epigenetic mark that controls gene expression and chromatin function.
KDM1B is a histone demethylase that specifically removes methyl groups from the lysine 4 position of histone H3 (H3K4). This methylation is a key mark for transcriptional activation, so KDM1B acts as a corepressor by reducing this mark. It is essential for the establishment of DNA methylation patterns at specific imprinted genes during oogenesis. KDM1B uses FAD (flavin adenine dinucleotide) to oxidize its substrate, producing an imine that is subsequently hydrolyzed. It can remove both mono- and di-methylated H3K4 but does not affect tri-methylated H3K4 or methylation at other lysine positions on histone H3 or histone H4. KDM1B cannot demethylate H3K4 on nucleosomes alone, requiring the presence of GLYR1 to achieve this activity. The KDM1B-GLYR1 complex modifies transcribed chromatin and facilitates Pol II transcription through nucleosomes.
KDM1B is also known as AOF1, C6orf193, LSD2.
Associated Diseases
- low grade glioma
- thiopurine S-methyltransferase deficiency
- female infertility due to oocyte meiotic arrest
- premature ovarian failure 19
- oocyte maturation defect 9
- female infertility due to zona pellucida defect
- oocyte maturation defect 8
