What is the official name of the SGOL1 gene?
The official name of this gene is “shugoshin-like 1 (S. pombe).”
SGOL1 is the gene's official symbol. The SGOL1 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 SGOL1 gene?
The SGOL1 gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Cohesin holds the sister chromatids together, and in doing so helps maintain the stability of chromosomal structure during cell division.
How are changes in the SGOL1 gene related to health conditions?
- chronic atrial and intestinal dysrhythmia - caused by mutations in the SGOL1 gene
- At least one SGOL1 gene mutation has been identified in people with chronic atrial and intestinal dysrhythmia (CAID), a disorder affecting the normal rhythmic movements of the heart and the digestive system. The SGOL1 gene mutation that causes CAID replaces a protein building block (amino acid) called lysine with the amino acid glutamic acid at protein position 23, written as Lys23Glu or K23E. Researchers suggest that the mutation may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause early aging (senescence) of cells in the intestinal muscle and in the heart's natural pacemaker (the sinoatrial node), resulting in problems maintaining proper rhythmic movements of the heart and intestines and leading to the signs and symptoms of CAID.It is unclear why SGOL1 gene mutations specifically affect the heart and intestines in CAID. Researchers suggest that the activity (expression) of the SGOL1 gene in certain embryonic tissues or a particular function of the SGOL1 protein in the sinoatrial node and in cells that help control the rhythm of intestinal movements may account for the features of the disorder.
Where is the SGOL1 gene located?
Cytogenetic Location: 3p24.3
Molecular Location on chromosome 3: base pairs 20,159,045 to 20,188,130
The SGOL1 gene is located on the short (p) arm of chromosome 3 at position 24.3.
More precisely, the SGOL1 gene is located from base pair 20,159,045 to base pair 20,188,130 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SGOL1?
You and your healthcare professional may find the following resources about SGOL1 helpful.
- Educational resources - Information pages
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 (3 links)
What other names do people use for the SGOL1 gene or gene products?
- serologically defined breast cancer antigen NY-BR-85
- shugoshin-like 1
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 SGOL1?
amino acid ; atrial ; cancer ; cell ; cell division ; chromosome ; chronic ; digestive ; digestive system ;DNA ; embryonic ; gene ; glutamic acid ; lysine ; mutation ; pacemaker ; protein ; sinoatrial node
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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