Melanoma-associated antigen 4 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''MAGEA4''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls.
Clinical importance
The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as
dyskeratosis congenita
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and ...
. At least four variants encoding the same protein have been found for this gene.
In
salivary gland carcinomas, MAGE4 expression correlates to lower-grade histology, lower likelihood of
metastases
Metastasis is a pathogenic agent's spread from an initial or primary site to a different or secondary site within the host's body; the term is typically used when referring to metastasis by a cancerous tumor. The newly pathological sites, then ...
and more favourable survival.
While MAGEA4 is expressed by many tumours, it is almost universally expressed by
synovial sarcomas. A targeted treatment to use genetically modified autologous
T cells
A T cell is a type of lymphocyte. T cells are one of the important white blood cells of the immune system and play a central role in the adaptive immune response. T cells can be distinguished from other lymphocytes by the presence of a T-cell re ...
is () undergoing clinical trials.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-X-stub