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Strabismus (protein)
From Wikipedia, the free encyclopedia
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Strabismus was originally identified as a Drosophila protein involved in planar cell polarity.[1] Flies with mutated strabismus genes have altered development of ommatidia 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.[2] In cells of the developing Drosophila wing, Prickle and Strabismus are concentrated at the cell surface membrane on the most proximal side of cells.[3]
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Vertebrate cell movement
VANGL2 is involved in the migration of groups of cells during vertebrate embryogenesis.[4]
Humans
In humans, mutations in VANGL1 have been associated with neural tube defects including spina bifida,[5] and with some forms of cancer including hepatocellular carcinoma.[6][7]
References
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