WNT7A: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. Signaling by Wnt-7a allows sexually dimorphic development of the mullerian ducts. Defects in WNT7A are the cause of 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. Defects in WNT7A are a cause of Fuhrmann syndrome (FUHRS); also known as fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly. Fuhrmann syndrome is a distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia. Belongs to the Wnt family.
Protein type: Secreted, signal peptide; Secreted
Cellular Component: proteinaceous extracellular matrix; extracellular space; cell surface; cell; extracellular region
Molecular Function: protein binding; frizzled binding; cytokine activity; receptor agonist activity; receptor binding
Biological Process: hindlimb morphogenesis; somatic stem cell maintenance; positive regulation of epithelial cell proliferation involved in wound healing; multicellular organismal development; positive regulation of transcription, DNA-dependent; Wnt receptor signaling pathway through beta-catenin; uterus development; cell-cell signaling; synapse organization and biogenesis; regulation of axon diameter; chondrocyte differentiation; somatic stem cell division; satellite cell activation; embryonic limb morphogenesis; cartilage condensation; cell fate commitment; skin morphogenesis; asymmetric protein localization; positive regulation of synaptogenesis; organ morphogenesis; response to estrogen stimulus; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; negative regulation of apoptosis; embryonic forelimb morphogenesis; limb development; neurotransmitter secretion; cell proliferation in forebrain; positive regulation of JNK cascade; palate development; regulation of axonogenesis; signal transduction; embryonic hindlimb morphogenesis; negative regulation of neurogenesis; forelimb morphogenesis; central nervous system vasculogenesis; positive regulation of cell proliferation; angiogenesis; fallopian tube development; Wnt receptor signaling pathway; embryonic axis specification; satellite cell compartment self-renewal involved in skeletal muscle regeneration; cerebellar granule cell differentiation; regulation of cell proliferation; stem cell development; dorsal/ventral pattern formation; skeletal morphogenesis; establishment of cell polarity; cartilage development; reproductive structure development
Show more