| KDM1A | |
|---|---|
| Gene Symbol | KDM1A |
| Full Name | Lysine Specific Demethylase 1A |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 23028 |
| Ensembl ID | ENSG00000136867 |
| OMIM ID | 607042 |
| UniProt ID | O60341 |
| Associated Diseases | Neurodevelopmental Disorders, Alzheimer's Disease, Parkinson's Disease |
| Protein Family | LSD1 family (Flavin-dependent amine oxidase) |
Kdm1A Lysine Specific Demethylase 1A is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
KDM1A encodes a lsd1 family (flavin-dependent amine oxidase) 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 KDM1A gene product is a histone demethylase that specifically removes methyl groups from lysine residues on histone H3 and H4. This enzyme belongs to the LSD1 family (Flavin-dependent amine oxidase) and functions as a transcriptional regulator by modulating chromatin accessibility. In neurons, KDM1A 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 KDM1A are associated with Neurodevelopmental Disorders, Alzheimer's Disease, Parkinson's Disease. These conditions involve dysregulation of epigenetic processes critical for proper neuronal development and function. Altered KDM1A activity affects the expression of genes essential for cognitive function, and its dysregulation is implicated in neurodegenerative processes.
KDM1A 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 Kdm1A Lysine Specific Demethylase 1A 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.