MAGEA10 Chromosome X

MAGE family member A10
1 variant 1 Health Risk

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What This Gene Does
This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]
Gene Info
Gene Group
MAGE family
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000124260
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS377180452 Health Risk Conflicting classifications of pathogenicity
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