Gene: WNT4

Alternate names for this Gene: SERKAL|WNT-4

Gene Summary: The WNT gene family consists of structurally related genes which 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 a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.12

Description of this Gene: Wnt family member 4

Type of Gene: protein-coding

Gene: LOC105376845

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rs121908653 in WNT4;LOC105376845 gene and Mullerian Aplasia and Hyperandrogenism PMID 16959810 2007 WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.

PMID 18182450 2008 Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.

PMID 15317892 2004 A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.