WNT-7a Human Active Protein

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]

Function: 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

By similarity.

Subunit structure: Interacts with PORCN

By similarity.

Subcellular location: Secreted › extracellular space › extracellular matrix.

Tissue specificity: Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.

Post-translational modification: Palmitoylation at Ser-206 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-73. Palmitoylation is necessary for proper trafficking to cell surface

By similarity.

Involvement in disease: Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9Fuhrmann syndrome (FUHRS) [MIM:228930]: Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities: Belongs to the Wnt family.