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Immunogen sequence: AEASEKDSSS MMQTLLTVTQ NVEVPETPKA SKALEVSEDV KVSKASGVSK ATEVSKTPEA REAPATQASS TTQLTDTQVL AAENKSLAAD TKKQNADPQA VTMPATETKK
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: 11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2; MAGED2
UniProt ID: (Human) Q9UNF1
Entrez Gene ID: (Human) 10916