Wingless-Type MMTV Integration Site Family, Member 7a (WNT7A) Antibody – Polyclonal

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, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 3p25

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

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

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

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