Medical Knowledge Cockpit caudal duplication anomaly

 

AXIN1

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and adishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, cateninbeta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negativeregulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induceapoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, hasbeen resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas,ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoformshave been identified for this gene. (provided by RefSeq, Dec 2010)

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and adishevelled and axin (DIX) domain

The encoded protein interacts with adenomatosis polyposis coli, cateninbeta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negativeregulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induceapoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, hasbeen resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas,ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoformshave been identified for this gene. (provided by RefSeq, Dec 2010)

 

AXIN1

Somatic tumors

colorectal, endometrial, prostate, hepatocellular carcinoma, hepatoblastoma, sporadic medulloblastoma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

axin 1

Chromosome banding

16p13.3

Cancer molecular gen.

Rec

Mutation type

D, Mis, N, F, S

Other syndrome disease

AXIN1

• Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway