WNT4
Function
Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450). Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in females, and normal levels of oocytes in the ovaries (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal down-regulation of 3 beta-hydroxysteroid dehydrogenase in the ovary (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal lung development and for normal patterning of trachael cartilage rings (By similarity).
Involvement in disease
46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs
SERKAL
A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.
None
The disease is caused by variants affecting the gene represented in this entry.
Mullerian aplasia and hyperandrogenism
MULLAPL
A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism.
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
Alternative names
UNQ426/PRO864, WNT4, Protein Wnt-4