Wingless-Type MMTV Integration Site Family, Member 7A

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OMIM Number

601570

NCBI Gene ID

7476

Uniprot ID

O00755

Length

63,814 bases

No. of Exons

6

No. of isoforms

1

Protein Name

Protein Wnt-7a

Molecular Mass

39005 Da

Amino Acid Count

349

Genomic Location

chr3:13,816,258-13,880,071

Gene Map Locus
3p25.1

Description

WNT7A is a member of the WNT family, which is involved in cell signaling and plays an important role in cancer development. WNT7A functions as a ligand for members of the frizzled family of seven transmembrane receptors. It is probably a developmental protein, it also guides the development of the anterior-posterior axis in the female reproductive tract, plays a critical role in uterine smooth muscle pattering, maintains the adult uterine function, and it also responds to changes in the levels of sex steroid hormone in the female reproductive tract.

WNT7A gene mutations result in limb pelvis hypoplasia aplasia syndrome (LPHAS) and Fuhrmann syndrome (FUHRS).

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004625.4:c.610G>ASaudi ArabiaNC_000003.12:g.13819384C>TLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicUlna and Fibula, Absence of, with Severe Limb Deficiency; Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and OligodactylyNG_008088.1:g.65738G>A; NM_004625.4:c.610G>A; NP_004616.2:p.Gly204Ser38790723135537
NM_004625.4:c.874C>TSyriachr3:13819120PathogenicPathogenicUlna and Fibula, Absence of, with Severe Limb DeficiencyNG_008088.1:g.66002C>T; NM_004625.4:c.874C>T; NP_004616.2:p.Arg292Cys1048938358060
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