[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Fetal brain;
DOI=10.1016/S0378-1119(96)00808-6; PubMed=9161407 [NCBI, ExPASy, EBI, Israel, Japan]
Bui T.D.,
Lako M.,
Lejeune S.,
Curtis A.R.J.,
Strachan T.,
Lindsay S.,
Harris A.L.;
"Isolation of a full-length human WNT7A gene implicated in limb development and cell transformation, and mapping to chromosome 3p25.";
Gene 189:25-29(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=8893824 [NCBI, ExPASy, EBI, Israel, Japan]
Ikegawa S.,
Kumano Y.,
Okui K.,
Fujiwara T.,
Takahashi E.,
Nakamura Y.;
"Isolation, characterization and chromosomal assignment of the human WNT7A gene.";
Cytogenet. Cell Genet. 74:149-152(1996).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 204-327.
TISSUE=Mammary gland;
PubMed=8168088 [NCBI, ExPASy, EBI, Israel, Japan]
Huguet E.L.,
McMahon J.A.,
McMahon A.P.,
Bicknell R.,
Harris A.L.;
"Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue.";
Cancer Res. 54:2615-2621(1994).
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[4]
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VARIANT FUHRMANN SYNDROME THR-109, VARIANT LPHAS CYS-292, CHARACTERIZATION OF VARIANT FUHRMANN SYNDROME THR-109, AND CHARACTERIZATION OF VARIANT LPHAS CYS-292.
DOI=10.1086/506332; PubMed=16826533 [NCBI, ExPASy, EBI, Israel, Japan]
Woods C.G.,
Stricker S.,
Seemann P.,
Stern R.,
Cox J.,
Sherridan E.,
Roberts E.,
Springell K.,
Scott S.,
Karbani G.,
Sharif S.M.,
Toomes C.,
Bond J.,
Kumar D.,
Al-Gazali L.,
Mundlos S.;
"Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.";
Am. J. Hum. Genet. 79:402-408(2006).
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- 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 (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.
- DISEASE: Defects in WNT7A are the cause of limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) [MIM:276820]; also called absence of ulna and fibula with severe limb deficiency. LPHAS is a limb-malformation disorder characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia.
- DISEASE: Defects in WNT7A are a cause of Fuhrmann syndrome [MIM:228930]; also called 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.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=WNT7A";.
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