Strabismus was originally identified as a ''
Drosophila'' protein involved in
planar cell polarity
Planar Cell Polarity (PCP) is the protein mediated signaling that coordinates the orientation of cells in a layer of epithelial tissue. In vertebrates, examples of mature PCP oriented tissue are the stereo-cilia bundles in the inner ear, motile cil ...
. Flies with mutated ''strabismus'' genes have altered development of
ommatidia
The compound eyes of arthropods like insects, crustaceans and millipedes are composed of units called ommatidia (singular: ommatidium). An ommatidium contains a cluster of photoreceptor cells surrounded by support cells and pigment cells. The ou ...
in their
eyes.
Vertebrates have two Strabismus-related proteins, VANGL1 and VANGL2 (an alternate name for the ''Drosophila'' "Strabismus" protein is "Van Gogh").
The amino acid sequence and localization studies for Strabismus indicate that it is a
membrane protein.
Prickle is another protein in the planar cell polarity signaling pathway. Prickle is recruited to the
cell surface
membrane by strabismus.
In cells of the developing ''Drosophila'' wing, Prickle and Strabismus are concentrated at the cell surface membrane on the most proximal side of cells.
Vertebrate cell movement
VANGL2 is involved in the migration of groups of cells during vertebrate embryogenesis.
Humans
In humans, mutations in VANGL1 have been associated with
neural tube defects including
spina bifida,
and with some forms of
cancer including
hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. HCC is the third leading cause of cancer-related deaths worldwide.
It occurs in t ...
.
References
{{DEFAULTSORT:Strabismus (Protein)
Cell signaling