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Immunogen sequence: DEPEPESAA AQSQENQDTR PKVKAKKARK VKHLDGEEDG SSDQSQASGT TGGRRVSKAL MASMARRASR GPIAFWARRA SRTRLAAWAR RALLSLRSPK ARRGKARRRA AKLQSSQEPE APPPRDVALL QGRANDLVKY LLAKDQTKIP IKRSDMLKDI IKEYTDVYPE IIERAGYSLE KVFGIQLKEI DKNDHLYILL STLEPTDAGI LGTTKDSPKL GLLMVLLSII FMNGNRSSEA VIWEVLRKLG LRPGIHHSLF GDVKKLITDE FVKQKYLDYA RVPNSNPPEY EFFWGLRSYY ETSKMKVLKF ACKVQKKDPK EWAAQYREAM (151-479 aa encoded by BC000304)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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; 4833439A22Rik; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2; MAGED2; ORF1
UniProt ID: (Human) Q9UNF1
Entrez Gene ID: (Human) 10916, (Mouse) 80884, (Rat) 113947
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