**Key characteristics:**
- The ADAM3B gene is located on chromosome 19p13.2.
- It is a pseudogene, meaning that it is not currently expressed in protein.
- It is alternatively spliced into two alternatively spliced transcripts, ADAM3B1 and ADAM3B2.
- ADAM3B1 is expressed in neurons and endothelial cells, while ADAM3B2 is expressed in astrocytes, ependymal cells, and Bergmann glial cells.
**Pathways and functions:**
- The ADAM3B protein is a metallopeptidase that is involved in a variety of cellular processes, including cell migration, adhesion, and signaling.
- It is expressed in high levels in neurons, where it is thought to play a role in synaptic plasticity and learning and memory.
- It is also expressed in astrocytes, where it is involved in maintaining blood-brain barrier integrity.
- The expression of ADAM3B is upregulated in several neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.
**Clinical significance:**
- Mutations in the ADAM3B gene have been linked to several neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.
- In animal models of these diseases, mutations in ADAM3B have been shown to cause neuroinflammation, synaptic loss, and cognitive deficits.
- Therefore, ADAM3B is a promising target for the treatment of neurodegenerative diseases.
Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.
