**Key characteristics:**
- The gene is located on chromosome 15q21.1.
- It is a pseudogene, meaning it is not directly coding for a protein but is instead a non-functional copy of the DPB1 gene.
- The protein is expressed in high levels in the developing nervous system, particularly in the hippocampus and cerebellum.
- It is also expressed in the retina, where it may play a role in the regulation of retinal ganglion cell function.
**Pathways and functions:**
- The protein encoded by HLA DPB2 is a component of the cell surface of neurons and retinal ganglion cells.
- It is involved in the recognition of MHC class II molecules by T cells.
- In the context of the nervous system, the protein is expressed on neurons and interneurons, where it is involved in the recognition of foreign antigens and the regulation of synaptic plasticity.
- It is also expressed on retinal ganglion cells, where it may play a role in the development and maintenance of retinal ganglion cell function.
**Clinical significance:**
- Mutations in the HLA DPB2 gene have been linked to several neurodegenerative diseases, including multiple sclerosis and amyotrophic lateral sclerosis.
- In these diseases, the protein encoded by HLA DPB2 is mutated or deleted, leading to the loss of function and the development of neurological symptoms.
- Understanding the role of HLA DPB2 in neurodegenerative diseases has potential implications for the development of new therapies.
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.
