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Abnova
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Immunogen sequence: ADEKEDLPNS STSFLFDKIP KQEEKLLPEL SSNHIIPNIQ DTQVHLGVSD DLGLLAHMTG SVDLTCTSSI IEEKEFKIHT TSDGMSSI
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.
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: FLJ10197; Lysosomal-trafficking regulator 2; Neurobeachin; Protein BCL8B; RP11-270C18.1
基因别名: BCL8B; KIAA1544; LYST2; NBEA
UniProt ID: (Human) Q5T320
Entrez Gene ID: (Human) 26960