On this page:
Reviewed November 2014
What is the official name of the SLURP1 gene?
The official name of this gene is “secreted LY6/PLAUR domain containing 1.”
SLURP1 is the gene's official symbol. The SLURP1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SLURP1 gene?
The SLURP1 gene provides instructions for making a protein called secreted Ly6/uPAR-related protein-1 (SLURP-1). This protein is found in skin cells and other cells that line the surfaces and cavities of the body. Like other Ly6/uPAR-related proteins, SLURP-1 folds into a particular shape and is thought to attach (bind) to other proteins called receptors to carry out signaling within cells. However, SLURP-1's role in the skin and the rest of the body is not completely understood.
Laboratory studies show that SLURP-1 can bind to nicotinic acetylcholine receptors (nAChRs). SLURP-1 specifically interacts with the alpha7 (α7) subunit, which is a piece of some nAChRs. Nicotinic acetylcholine receptors are best known for their role in chemical signaling between nerve cells, but they are also found in other tissues. In the skin, nAChRs regulate the activity of genes involved in the growth and division (proliferation), maturation (differentiation), and survival of cells. Through its interaction with these receptors, SLURP-1 may be involved in skin growth and development.
How are changes in the SLURP1 gene related to health conditions?
- mal de Meleda - caused by mutations in the SLURP1 gene
- At least 15 mutations in the SLURP1 gene have been found to cause mal de Meleda, a rare disorder characterized by tough, thickened skin on the hands and feet. On the palms and soles, the thickening is known as palmoplantar keratoderma; the thickened skin also extends to the backs of the hands and feet and up to the wrists and ankles. The SLURP1 gene mutations involved in this condition lead to production of an altered SLURP-1 protein that is unstable and quickly broken down, if any protein is produced at all. As a result, affected individuals have little or no SLURP-1 protein. It is unclear how a lack of this protein leads to the skin problems that occur in mal de Meleda. Researchers speculate that without SLURP-1, the activity of genes controlled by nAChR signaling is altered, leading to overgrowth of skin cells or survival of cells that normally would have died. The excess of cells can result in skin thickening. It is unclear why skin on the hands and feet is particularly affected.
Where is the SLURP1 gene located?
Cytogenetic Location: 8q24.3
Molecular Location on chromosome 8: base pairs 142,740,943 to 142,742,410
The SLURP1 gene is located on the long (q) arm of chromosome 8 at position 24.3.
More precisely, the SLURP1 gene is located from base pair 142,740,943 to base pair 142,742,410 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLURP1?
You and your healthcare professional may find the following resources about SLURP1 helpful.
- Educational resources - Information pages
- Genetic Testing Registry - Repository of genetic test information (1 link)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
PubMed- Recent literature OMIM- Genetic disorder catalog
- Research Resources - Tools for researchers (4 links)
What other names do people use for the SLURP1 gene or gene products?
- anti-neoplastic urinary protein
- ARS(component B)-81/S
- lymphocyte antigen 6-like secreted
- secreted Ly6/uPAR related protein 1
- secreted Ly-6/uPAR-related protein 1
- secreted Ly-6/uPAR-related protein 1 precursor
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
- What is DNA?
- What is a gene?
- How do genes direct the production of proteins?
- How can gene mutations affect health and development?
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SLURP1?
acetylcholine ; ARS ; differentiation ; domain ; gene ; keratoderma ; lymphocyte ;palmoplantar keratoderma ; precursor ; proliferation ; protein ; subunit
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.
No hay comentarios:
Publicar un comentario