| MACF1 — Microtubule-actin crosslinking factor 1 | |
|---|---|
| Symbol | MACF1 |
| Full Name | Microtubule-actin crosslinking factor 1 |
| Chromosome | 9p21.3 |
| NCBI Gene | 23499 |
| Ensembl | ENSG00000127603 |
| OMIM | 608271 |
| UniProt | Q9UPV3 |
| Diseases | Alzheimer's Disease, Lissencephaly |
| Expression | Brain, Lung, Kidney |
MACF1 is a gene implicated in neurodegenerative diseases. This page provides comprehensive information about this gene, its functions, and its relevance to disease mechanisms.
MACF1 (also known as ACF7) is a cytoskeletal protein that crosslinks microtubules and actin filaments. It plays critical roles in neuronal migration, axon guidance, and synaptic function. MACF1 mutations are associated with neurological disorders.
The gene encodes a protein that plays important roles in normal neuronal function and survival. Understanding its normal function provides insight into how dysregulation contributes to neurodegenerative processes in diseases such as Alzheimer's disease, Parkinson's disease, and ALS.
MACF1 encodes a protein involved in various cellular processes relevant to neuronal health. The protein localizes to specific cellular compartments and participates in signaling pathways that regulate:
MACF1 is expressed in Brain, Lung, Kidney. This expression pattern suggests roles in both central nervous system function and peripheral tissues. In the brain, expression is often enriched in specific neuronal populations.
Alterations in MACF1 expression or function have been reported in Alzheimer's disease brain tissue. Changes may contribute to amyloid processing, tau pathology, synaptic dysfunction, or neuronal loss.
MACF1 has been implicated in Parkinson's disease pathogenesis through roles in dopaminergic neuron survival, protein aggregation, or mitochondrial dysfunction.
Depending on its specific function, MACF1 may also play roles in other neurodegenerative conditions including ALS, Huntington's disease, and frontotemporal dementia.
Understanding the role of MACF1 in neurodegeneration may lead to therapeutic strategies targeting: