AXIN1 Chromosome 16

Axin 1
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103126
Associated Conditions (2)
Craniometadiaphyseal osteosclerosis with hip dysplasia
Hepatocellular carcinoma
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2548491182 Health Risk Pathogenic Craniometadiaphyseal osteosclerosis with hip dysplasia, Craniometadiaphyseal osteosclerosis with hip dysplasia
RS370661416 Health Risk Pathogenic Craniometadiaphyseal osteosclerosis with hip dysplasia, Craniometadiaphyseal osteosclerosis with hip dysplasia
RS587776627 Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
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