Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Protein amnionless

The AMN gene encodes a cofactor by which the protein receptor cubilin can be internalized. In the intestine, deficiency result in a lack of resoption of vitamin B12 and in proximal tubule to proteinuria. Mutations cause autosomal recessive megaloblastic anemia.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Imerslund-Grasbeck syndrome
AMN
CUBN

References:

1.

Aminoff M et al. (1999) Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

external link
2.

Fyfe JC et al. (2004) The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

external link
3.

Wang X et al. (1996) A candidate gene for the amnionless gastrulation stage mouse mutation encodes a TRAF-related protein.

external link
4.

Tomihara-Newberger C et al. (1998) The amn gene product is required in extraembryonic tissues for the generation of middle primitive streak derivatives.

external link
5.

None (1999) Moonlighting proteins.

external link
6.

None (2001) The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.

external link
7.

Dunn NR et al. (2001) How does the mouse get its trunk?

external link
8.

Kalantry S et al. (2001) The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain.

external link
9.

Tanner SM et al. (2003) Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

external link
10.

GRASBECK R et al. (1960) Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.

external link
11.

Bouchlaka C et al. (2007) Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

external link
12.

NCBI article

NCBI 81693 external link
13.

OMIM.ORG article

Omim 605799 external link
14.

Orphanet article

Orphanet ID 138568 external link
15.

Wikipedia article

Wikipedia EN (Amnionless) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits