Recombinant Human APC membrane recruitment protein 1 (FAM123B), partial

1. A novel heterozygous frameshift mutation in AMER1 was identified in a patient with osteopathia striata with cranial sclerosis. PMID: 28893644
2. Losses of AMER1 by other mechanisms apart from mutations. PMID: 26071483
3. A nonsense mutation (c.1045C>T, p.Glu349*) in the WTX gene. PMID: 24459086
4. WTX inactivation occurs in a wider variety of tumor types than previously appreciated and point to shared pathogenic mechanisms between a subset of pediatric malignancies. PMID: 24249259
5. Data indicate that osteopathia striata congenita with cranial sclerosis (OSCS) iscaused by germline deletions of in the X-linked gene WTX (FAM123B, AMER1). PMID: 22670894
6. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. PMID: 20950377
7. Stat3 inhibits WTX expression through up-regulation of micro RNA-370 in Wilms tumor. PMID: 23333300
8. Osteopathia striata with cranial sclerosis or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia. Genetic analysis allowed the identification of maternally transmitted heterozygous nonsense c.1057C>T (p.R353X) WTX mutation. PMID: 22716240
9. WTX mutations occur early in Wilms' tumor development, but at a low proportion. There was no evidence that WTX is the main cause of Wilms' tumor. PMID: 22800892
10. WTX modulates p53 function, in part through regulation of its activator CBP/p300. PMID: 22285752
11. WTX and NRF2 compete for binding to KEAP1, and thus loss of WTX leads to rapid ubiquitination and degradation of NRF2 and a reduced response to cytotoxic insult. PMID: 22215675
12. Amer1 exerts its negative regulatory role in Wnt signaling by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the plasma membrane. PMID: 21498506
13. WTX mutations can arise both early and late in Wilms tumour development PMID: 20679664
14. When gene expression changes mediated by wild-type WTX were compared with those affected by mutant WTX, WTX565 had a 55% overlap in differentially regulated genes, whereas WTX358 regulated only two genes affected by wild-type WTX. PMID: 20956941
15. Mutations in the WTX-gene are associated with high-grade microsatellite instable colorectal cancers. PMID: 20696052
16. inactivation of WTX appears to be a late event in tumorigenesis of nephroblastoma in a subgroup of nephroblastomas PMID: 19757195
17. All investigated families diagnosed with Osteopathia striata with cranial sclerosis had WTX gene defects. PMID: 20209645
18. WTX, is inactivated in approximately one-third of Wilms tumors; it is inactivated by a monoallelic "single-hit" event targeting the single X chromosome in tumors from males and the active X chromosome in tumors from females PMID: 17204608
19. findings show that WTX, a protein encoded by a gene mutated in Wilms tumors, forms a complex with beta-catenin, AXIN1, beta-TrCP2 and APC; data provide a possible mechanistic explanation for the tumor suppressor activity of WTX PMID: 17510365
20. Deletion of the WTX gene is associated with Wilms' tumor with a balanced translocation t(X;18) PMID: 17620295
21. These data indicate that AMER1 controls the subcellular distribution of APC between membrane- and microtubule-associated pools, and might thereby regulate APC-dependent cellular morphogenesis, cell migration and cell-cell adhesion. PMID: 17925383
22. Gene has a tumor suppressor function in Wilms tumors, and is involved in beta-catenin destruction. PMID: 18021721
23. WT1 and WTX mutations occur with similar frequency, that they partially overlap in Wilms tumors, and that mutations in WT1, WTX, and CTNNB1 underlie the genetic basis of about one-third of Wilms tumors PMID: 18311776
24. Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors. PMID: 18391980
25. there was not any evidence of WTX mutation in the 143 acute leukemia patients PMID: 18452086
26. WTX is rarely mutated in acute myeloid leukemia PMID: 18460646
27. Data indicate that WTX mutation is rare in colorectal, gastric, and hepatocellular carcinomas. PMID: 18720004
28. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis. PMID: 19079258
29. Mutations in WTX gene is associated with Wilms tumor. PMID: 19137020
30. WTX binds WT1 and enhances WT1-mediated transcription, suggesting a role for WTX in nuclear pathways implicated in the transcriptional regulation of cellular differentiation programs PMID: 19416806
31. WTX inactivation is associated with Wilms tumors PMID: 19760609

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HGNC: 26837

OMIM: 300373

KEGG: hsa:139285

STRING: 9606.ENSP00000329117

UniGene: Hs.314225