Protein Wnt-7a (WNT7A) ELISA Kit for Human

This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]

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; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 3p25

Cellular Component: cell surface; endoplasmic reticulum lumen; extracellular region; extracellular space; Golgi lumen; plasma membrane; proteinaceous extracellular matrix

Molecular Function: cytokine activity; frizzled binding; protein binding; receptor agonist activity; receptor binding

Biological Process: angiogenesis; asymmetric protein localization; axonogenesis; cartilage condensation; cell fate commitment; cell proliferation in forebrain; central nervous system vasculogenesis; cerebellar granule cell differentiation; chondrocyte differentiation; dorsal/ventral pattern formation; embryonic axis specification; embryonic digit morphogenesis; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; establishment of cell polarity; fallopian tube development; negative regulation of apoptosis; negative regulation of neurogenesis; neuron differentiation; neurotransmitter secretion; palate development; positive regulation of epithelial cell proliferation involved in wound healing; positive regulation of JNK cascade; positive regulation of synaptogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of axon diameter; response to estradiol stimulus; satellite cell activation; satellite cell compartment self-renewal involved in skeletal muscle regeneration; sex differentiation; somatic stem cell division; somatic stem cell maintenance; stem cell development; synaptogenesis; Wnt receptor signaling pathway through beta-catenin

Disease: Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly; Ulna And Fibula, Absence Of, With Severe Limb Deficiency