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VEGFC
vascular endothelial growth factor C
The *VEGFC* gene provides instructions for making vascular endothelial growth factor C, a protein essential for the formation and maintenance of lymphatic vessels. The *VEGFC* gene encodes a protein called vascular endothelial growth factor C, which plays a crucial role in angiogenesis, lymphangiogenesis, and the remodelling of blood and lymphatic vessels.
VEGFC is located on the long (q) arm of chromosome 4, at band 4q34.3. Arm ratio per GRCh38 - banding schematic.
Explore chromosome 4 in the library →Overview
The *VEGFC* gene, short for vascular endothelial growth factor C, is a key component in the development and maintenance of the circulatory and lymphatic systems. It codes for a protein that belongs to the vascular endothelial growth factor family, known for regulating the growth of new blood vessels (angiogenesis) and lymphatic vessels (lymphangiogenesis). Understanding the *VEGFC* gene's role is important for comprehending conditions that affect lymph vessel development.
What the gene does
The protein produced by the *VEGFC* gene, VEGFC, acts as a signalling molecule that binds to specific receptors on the surface of lymphatic endothelial cells. This binding initiates a cascade of events leading to the proliferation, migration, and survival of these cells, which are fundamental for forming new lymphatic vessels. It is especially vital during embryonic development for establishing the lymphatic network throughout the body. Beyond its role in initial development, VEGFC also contributes to the maintenance and repair of lymphatic vessels in adults, influencing fluid balance and immune cell trafficking.
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Chromosome location
The *VEGFC* gene is situated on chromosome 4, specifically at position 4q34.3. This location specifies its address within the human genome, indicating where the gene can be found among the thousands of genes arrayed along the fourth chromosome.
Protein structure
The VEGFC protein is composed of 419 amino acids. It features several key structural elements. A notable region includes 4 X 16 AA repeats of C-X(10)-C-X-C-X(1,3)-C, extending from amino acids 280-362. Within this larger region, specific repeat modules are identified: Repeat 1 (amino acids 280-295), Repeat 2 (amino acids 304-319), Repeat 3 (amino acids 328-343), and Repeat 4 (amino acids 347-362). These structured repeats are vital for the protein's function and interactions.
Key variants
Genetic changes, or variants, within the *VEGFC* gene can alter the protein's structure or function. Such alterations may impair its ability to regulate lymphatic vessel development and maintenance. The impact of a specific variant often depends on its location within the gene and how it affects the final protein product.
Sample of pathogenic variants
3 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.362-2A>T | - | Pathogenic | ★☆☆☆ | not provided |
c.628C>T | p.Arg210Ter | Pathogenic | ★☆☆☆ | not provided |
c.571_572insTT | p.Pro191fs | Pathogenic | - | Lymphatic malformation 4 |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Pathogenic variants in the *VEGFC* gene are primarily associated with conditions affecting the lymphatic system. The lymphatic system is crucial for fluid balance and immune function, and its improper development can lead to various health issues. Conditions linked to *VEGFC* typically involve abnormal lymphatic vessel formation or function.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic VEGFC variants typically follow autosomal dominant inheritance.
Each child has a 50% chance of inheriting the pathogenic variant, regardless of sex.
UK clinical status
The *VEGFC* gene is included in several NHS Genomic Medicine Service national panels. It is evaluated on the Green list for 'Foetal anomalies' (R21) and 'Primary lymphoedema' (R136), indicating its established clinical relevance within the UK healthcare system.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the role of VEGFC in the body?
VEGFC protein is crucial for the formation and development of lymphatic vessels, a process known as lymphangiogenesis. It also plays a role in the remodelling of blood vessels and maintaining overall fluid balance.
How can genetic variants in *VEGFC* affect health?
Variants in the *VEGFC* gene can lead to improper development or function of the lymphatic system. This can result in conditions like primary lymphoedema, which is characterised by swelling caused by impaired lymphatic drainage.
Is *VEGFC* tested in the UK healthcare system?
Yes, the *VEGFC* gene is included in NHS Genomic Medicine Service national panels for conditions such as primary lymphoedema and certain foetal anomalies, indicating its clinical significance in the UK.