MAGED1 Chromosome X
MAGE family member D1
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What This Gene Does
This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MAGE family
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000179222
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199703705 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782464602 | Health Risk | Conflicting classifications of pathogenicity | — |