Biology:Strabismus (protein)

From HandWiki
vang-like 1 (van gogh, Drosophila)
Identifiers
SymbolVANGL1
NCBI gene81839
OMIM610132

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]

Vertebrate cell movement

vang-like 2 (van gogh, Drosophila)
Identifiers
SymbolVANGL2
NCBI gene57216
OMIM600533

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