Reviewed April 2007
What is the official name of the SH3TC2 gene?
The official name of this gene is “SH3 domain and tetratricopeptide repeats 2.”
SH3TC2 is the gene's official symbol. The SH3TC2 gene is also known by other names, listed below.
What is the normal function of the SH3TC2 gene?
The SH3TC2 gene is active in nervous tissue and provides instructions for making a protein whose function is unknown. Based on its structure, the SH3TC2 protein probably interacts with other proteins and may assist in assembling proteins into a group or complex.
How are changes in the SH3TC2 gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the SH3TC2 gene
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Researchers have identified more than 10 SH3TC2 mutations that cause a form of Charcot-Marie-Tooth disease known as type 4C. Most of these mutations disrupt protein production, resulting in an abnormally small or unstable version of the SH3TC2 protein. Some mutations change one of the building blocks (amino acids) used to make the SH3TC2 protein, which alters the protein's structure. It is unclear how SH3TC2 mutations cause the signs and symptoms of type 4C Charcot-Marie-Tooth disease.
Where is the SH3TC2 gene located?
Cytogenetic Location: 5q32
Molecular Location on chromosome 5: base pairs 148,364,376 to 148,422,879
The SH3TC2 gene is located on the long (q) arm of chromosome 5 at position 32.
More precisely, the SH3TC2 gene is located from base pair 148,364,376 to base pair 148,422,879 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SH3TC2?
You and your healthcare professional may find the following resources about SH3TC2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the SH3TC2 gene or gene products?
- CMT4C
- CMTND
- FLJ13605
- KIAA1985
- S3TC2_HUMAN
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SH3TC2?
acids ;
amino acid ;
domain ;
gene ;
mutation ;
protein ;
sign ;
symptom ;
tissue
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.
