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This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants.
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Protein Aliases: 11B6; BCG-1; Breast cancer-associated gene 1 protein; Hepatocellular carcinoma-associated protein JCL-1; JCL-1; MAGE-D2 antigen; MAGED; melanoma antigen family D, 2; melanoma antigen family D2; Melanoma-associated antigen D2; MGC8386
Gene Aliases: 11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2; MAGED2
UniProt ID: (Human) Q9UNF1
Entrez Gene ID: (Human) 10916
Molecular Function: scaffold/adaptor protein