| KDM3B | |
|---|---|
| Gene Symbol | KDM3B |
| Full Name | Lysine Specific Demethylase 3B |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 55693 |
| Ensembl ID | ENSG00000106479 |
| OMIM ID | 607395 |
| UniProt ID | Q7Z6W4 |
| Associated Diseases | Neurodevelopmental Disorders, Alzheimer's Disease, Depression |
| Protein Family | JHDM2 family (Jumonji C domain demethylase) |
Kdm3B Lysine Specific Demethylase 3B is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
KDM3B encodes a jhdm2 family (jumonji c domain demethylase) that catalyzes the removal of methyl groups from histone lysine residues. This epigenetic enzyme plays critical roles in chromatin remodeling and gene expression regulation in the nervous system. Histone methylation is a key post-translational modification that regulates neuronal gene expression programs involved in development, synaptic plasticity, and memory formation.
The KDM3B gene product is a histone demethylase that specifically removes methyl groups from lysine residues on histone H3 and H4. This enzyme belongs to the JHDM2 family (Jumonji C domain demethylase) and functions as a transcriptional regulator by modulating chromatin accessibility. In neurons, KDM3B regulates genes involved in synaptic plasticity, neuronal survival, and stress responses. The enzyme requires iron and 2-oxoglutarate as cofactors for its demethylase activity.
Pathogenic variants in KDM3B are associated with Neurodevelopmental Disorders, Alzheimer's Disease, Depression. These conditions involve dysregulation of epigenetic processes critical for proper neuronal development and function. Altered KDM3B activity affects the expression of genes essential for cognitive function, and its dysregulation is implicated in neurodegenerative processes.
KDM3B is expressed throughout the brain, with high expression in the hippocampus, cerebral cortex, and cerebellum. The gene shows cell-type specific expression in neurons and glial cells, with activity-dependent regulation in response to neuronal stimulation.
The study of Kdm3B Lysine Specific Demethylase 3B has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.