MAGED2


Description

The MAGED2 (MAGE family member D2) is a protein-coding gene located on chromosome X.

MAGED2 is a protein encoded by the MAGED2 gene, which belongs to the MAGED gene family. Unlike the MAGEA and MAGEB genes, which are typically silent in normal tissues except for testis and placenta, MAGED genes are expressed ubiquitously. These genes are clustered on chromosome Xp11, with MAGED2 specifically located in Xp11.2, a region associated with X-linked mental retardation (XLMR). Multiple transcript variants have been identified for this gene, although the full length of some variants remains undefined.

MAGED2 regulates the expression, localization to the plasma membrane, and function of the sodium chloride cotransporters SLC12A1 and SLC12A3. These transporters play a crucial role in salt reabsorption within the distal renal tubule.

MAGED2 is also known as 11B6, BARTS5, BCG-1, BCG1, HCA10, MAGE-D2.

Associated Diseases



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