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

Melanoma-associated antigen D2

The MAGED2 gene encodes a protein of still unknown function. Mutations cause x-linked transient antenatal Bartter syndrome.

Genetests:

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

Related Diseases:

Transient antenatal Bartter syndrome
MAGED2

References:

1.

Reinalter S et al. (1998) Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms.

external link
2.

Laghmani K et al. (2016) Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

external link
3.

Lucas S et al. (1999) A new MAGE gene with ubiquitous expression does not code for known MAGE antigens recognized by T cells.

external link
4.

Langnaese K et al. (2001) Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues.

external link
5.

Ross MT et al. (2005) The DNA sequence of the human X chromosome.

external link
6.

NCBI article

NCBI 10916 external link
7.

OMIM.ORG article

Omim 300470 external link
8.

Orphanet article

Orphanet ID 459084 external link
9.

Wikipedia article

Wikipedia EN (MAGED2) external link
Update: Aug. 14, 2020
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