GENETIC ENCYCLOPEDIA
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gene: APBB1

id322
symbolAPBB1
organismHomo sapiens
full nameamyloid beta precursor protein binding family B member 1
summaryThe protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
variant-disease

GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 AND See cases

GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 AND not provided

GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3 AND See cases

GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 AND See cases

GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 AND not provided

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