APC membrane recruitment protein 1
The AMER1 gene encodes a transcription factor that upregulates the WT1 gene. Germline mutations lead to x-linked codominant Osteopathia striata with cranial sclerosis while somatic mutations are found in Wilms tumor cells.
Genetests:
Related Diseases:
References:
1. |
Jenkins ZA et al. (2009) Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
|
2. |
Perdu B et al. (2010) Osteopathia striata with cranial sclerosis owing to WTX gene defect.
|
3. |
Perdu B et al. (2011) Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
|
4. |
Holman SK et al. (2011) The male phenotype in osteopathia striata congenita with cranial sclerosis.
|
5. |
König R et al. (1996) Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.
|
6. |
Keymolen K et al. (1997) How to counsel in osteopathia striata with cranial sclerosis.
|
7. |
Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.
|
8. |
Rivera MN et al. (2007) An X chromosome gene, WTX, is commonly inactivated in Wilms tumor.
|
9. |
Ota T et al. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs.
|
10. |
Kimura K et al. (2006) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
|
11. |
Major MB et al. (2007) Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling.
|
12. |
Grohmann A et al. (2007) AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane.
|
13. |
NCBI article
NCBI 139285
|
14. |
OMIM.ORG article
Omim 300647
|
15. |
Orphanet article
Orphanet ID 173515
|
Update: Aug. 14, 2020