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Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity.
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: Ankyrin repeat family A protein 1; ankyrin repeat-containing regulatory factor X-associated protein; DNA-binding protein RFXANK; Regulatory factor X subunit B; Regulatory factor X-associated ankyrin-containing protein; RFX-B; RFX-Bdelta4
基因别名: ANKRA1; BLS; F14150_1; RFX-B; RFXANK; RFXB
UniProt ID: (Human) Q24JQ1
Entrez Gene ID: (Human) 8625