WNT7A
Domain
The intrinsically disordered linker region is required for recognition by RECK in brain endothelial cells.
Function
Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity).
Involvement in disease
Limb pelvis hypoplasia aplasia syndrome
LPHAS
A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present.
None
The disease is caused by variants affecting the gene represented in this entry.
Fuhrmann syndrome
FUHRS
Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.
Sequence Similarities
Belongs to the Wnt family.
Tissue Specificity
Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
- Secreted
Alternative names
Protein Wnt-7a, WNT7A