Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
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.

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2.

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

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3.

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

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4.

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

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5.

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

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Update: Sept. 26, 2018