# Summary
The KRT18P1 gene encodes a keratin protein that is expressed in the skin and other stratified squamous epithelia. It is a pseudogene, meaning that it is not currently expressed in the genome but has the potential to encode a protein in the future.
# Key characteristics
* **Gene name:** KRT18P1
* **Ensembl ID:** ENSG00000228666
* **Protein:** keratin 18 pseudogene 1
* **Expression:** significantly expressed in bladder urothelial cells and neurons
# Pathways and functions
* **Skin barrier function:** Keratin 18 is a key component of the skin barrier, helping to protect the body from environmental damage. It is expressed in the skin's basal layer, where it helps to maintain the integrity of the barrier.
* **Neuroprotective function:** Keratin 18 has also been shown to have a role in neuroprotection. It is expressed in neurons and is thought to protect them from damage by inflammatory cytokines.
* **Cell migration:** Keratin 18 is also expressed in cells that migrate through the skin, such as hair and skin cells.
# Clinical significance
Mutations in the KRT18P1 gene have been linked to a number of skin disorders, including epidermolysis bullosa simplex (EBS) and neurodegenerative diseases such as Alzheimer's disease. These disorders are caused by mutations in genes that are involved in skin barrier function or cell migration. Treatment with antibodies against keratin 18 has been shown to be effective in treating EBS and other skin disorders caused by keratin 18 mutations.
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.
