WNT3

Function

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:26902720). Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis. Required for normal formation of the apical ectodermal ridge (By similarity). Required for normal embryonic development, and especially for limb development (PubMed:14872406).

Involvement in disease

Tetraamelia syndrome 1

TETAMS1

A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS1 patients manifest complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects. TETAMS1 transmission pattern is consistent with autosomal recessive inheritance.

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.

Cellular localization

• Secreted
• Extracellular space
• Extracellular matrix
• Secreted

Alternative names

• Proto-oncogene Wnt-3
• Proto-oncogene Int-4 homolog
• WNT3
• INT4

Database links

• entrezGene:7473
• omim:165330
• swissprot:P56703

Target type

Proteins

Primary research area

Oncology

Molecular weight

39645Da