MAGEB2
Description
The MAGEB2 (MAGE family member B2) is a protein-coding gene located on chromosome X.
MAGEB2 is a human protein encoded by the MAGEB2 gene, which belongs to the MAGEB gene family. These genes share a high degree of sequence similarity and have their coding sequences located in the last exon. The promoters and first exons of MAGEB genes exhibit variability, suggesting that this gene family allows for the same function to be expressed under different regulatory conditions. The MAGEB2 gene is situated within the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, as well as in a significant portion of various types of tumors. The MAGEB genes are clustered on chromosome Xp22-p21.
MAGEB2 may enhance the activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, likely by recruiting and/or stabilizing the Ubl-conjugating enzyme (E2) at the E3:substrate complex.
MAGEB2 is also known as CT3.2, DAM6, MAGE-XP-2.
Associated Diseases
- laryngotracheoesophageal cleft
- carcinoma of liver and intrahepatic biliary tract
- cancer
- neurofibromatosis type 1
- nonpapillary renal cell carcinoma
