background:
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.
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:
Interacts with PORCN.
Subcellular Location:
Secreted, extracellular space, extracellular matrix.
Tissue Specificity:
Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.
DISEASE:
Defects in WNT7A are the cause of 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.
Defects in WNT7A are a cause of Fuhrmann syndrome (FUHRS) [MIM:228930]; 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.
Similarity:
Belongs to the Wnt family.
Database links:
Entrez Gene: 7476 Human
Entrez Gene: 533782 Cow
Entrez Gene: 60736 Dog
Entrez Gene: 100055450 Horse
Entrez Gene: 22421 Mouse
Entrez Gene: 100355697 Rabbit
Entrez Gene: 114850 Rat
Omim: 601570 Human
SwissProt: O00755 Human
SwissProt: P24383 Mouse
Unigene: 72290 Human
Unigene: 56964 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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