ROBO4

Function

Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). Involved in the maintenance of endothelial barrier organization and function (PubMed:30455415).

Involvement in disease

Aortic valve disease 3

AOVD3

A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the immunoglobulin superfamily. ROBO family.

Tissue specificity

Specifically expressed in endothelial cells. Expressed in endothelial and intimal cells of the ascending aorta (PubMed:30455415).

Alternative names

• Roundabout homolog 4
• Magic roundabout
• UNQ421/PRO3674
• ROBO4

Database links

• entrezGene:54538
• omim:607528
• swissprot:Q8WZ75

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

107457Da