Home
>
Product
>
Antibody
>
Rabbit Anti-VANGL2/FITC Conjugated antibody
background:
The Vang family of proteins are integral membrane proteins that are homologs of the Drosophila tissue polarity gene strabismus. The gene encoding for Van Gogh-like protein 1 (Vangl1), also designated Strabismus 2 (STB2), localizes to chromosome 1p11-p13.1. Van Gogh-like protein 2 (Vangl2), also designated Strabismus1 (STB1), localizes on chromosome 1q22-q23. Vangl1 is expressed in testis and ovary, but also in gastric and pancreatic cancer. Vangl proteins play a key developmental role in establishing planar cell polarity (PCP) and in regulating convergent extension (CE) movements during embryogenesis. Vangl1 and Vangl2 are both down-regulated in several cancer cell lines and primary tumors.
Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process.
Function:
Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process (By similarity).
Subunit:
Interacts through its SLCterminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction. Also interacts with the PDZ domains of MAGI3, SCRIB/SCRB1 and FZD3 (By similarity).
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential).
DISEASE:
Defects in VANGL2 are a cause of neural tube defects (NTD) [MIM:182940]. NTD are congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Similarity:
Belongs to the Vang family.
Database links:
Entrez Gene: 57216 Human
Entrez Gene: 93168 Mouse
Entrez Gene: 289229 Rat
Omim: 600533 Human
SwissProt: Q9ULK5 Human
SwissProt: Q91ZD4 Mouse
SwissProt: P84889 Rat
Unigene: 99477 Human
Unigene: 36148 Mouse
Unigene: 392110 Mouse
Unigene: 198958 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
