| MAGEA12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MAGEA12, CT1.12, MAGE12, MAGE family member A12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300177 HomoloGene: 88720 GeneCards: MAGEA12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Melanoma-associated antigen 12 is a protein that in humans is encoded by the MAGEA12 gene.[3][4]
Function
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.[4]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000213401 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Rogner UC, Wilke K, Steck E, Korn B, Poustka A (October 1995). "The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28". Genomics. 29 (3): 725–31. doi:10.1006/geno.1995.9945. PMID 8575766.
- 1 2 "Entrez Gene: MAGEA12 melanoma antigen family A, 12".
Further reading
- De Plaen E, Arden K, Traversari C, Gaforio JJ, Szikora JP, De Smet C, Brasseur F, van der Bruggen P, Lethé B, Lurquin C (1994). "Structure, chromosomal localization, and expression of 12 genes of the MAGE family". Immunogenetics. 40 (5): 360–9. doi:10.1007/BF01246677. PMID 7927540. S2CID 11331427.
- Ding M, Beck RJ, Keller CJ, Fenton RG (July 1994). "Cloning and analysis of MAGE-1-related genes". Biochemical and Biophysical Research Communications. 202 (1): 549–55. doi:10.1006/bbrc.1994.1963. PMID 8037761.
- De Smet C, Lurquin C, van der Bruggen P, De Plaen E, Brasseur F, Boon T (1994). "Sequence and expression pattern of the human MAGE2 gene". Immunogenetics. 39 (2): 121–9. doi:10.1007/bf00188615. PMID 8276455. S2CID 13579671.
- Mallon AM, Platzer M, Bate R, Gloeckner G, Botcherby MR, Nordsiek G, Strivens MA, Kioschis P, Dangel A, Cunningham D, Straw RN, Weston P, Gilbert M, Fernando S, Goodall K, Hunter G, Greystrong JS, Clarke D, Kimberley C, Goerdes M, Blechschmidt K, Rump A, Hinzmann B, Mundy CR, Miller W, Poustka A, Herman GE, Rhodes M, Denny P, Rosenthal A, Brown SD (June 2000). "Comparative genome sequence analysis of the Bpa/Str region in mouse and Man". Genome Research. 10 (6): 758–75. doi:10.1101/gr.10.6.758. PMC 310879. PMID 10854409.
- Wischnewski F, Friese O, Pantel K, Schwarzenbach H (July 2007). "Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters". Molecular Cancer Research. 5 (7): 749–59. doi:10.1158/1541-7786.MCR-06-0364. PMID 17634428.
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