APBB1
amyloid beta precursor protein binding family B member 1
Summary
The 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]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1025381876 | 11:6,416,790 | T/C | — | uncertain significance |
| rs767793385 | 11:6,416,815 | C/A | — | uncertain significance |
| rs2493833515 | 11:6,416,907 | C/T | — | uncertain significance |
| rs368639335 | 11:6,416,928 | G/A | — | uncertain significance |
| rs750415619 | 11:6,417,053 | G/A | — | uncertain significance |
| rs770078300 | 11:6,417,099 | C/T | — | uncertain significance |
| rs750182977 | 11:6,417,162 | G/A | — | uncertain significance |
| rs757637279 | 11:6,417,376 | C/A | — | uncertain significance |
| rs368741206 | 11:6,417,427 | C/T | — | uncertain significance |
| rs979700045 | 11:6,422,237 | G/T | — | uncertain significance |
| rs144723218 | 11:6,422,634 | C/T | — | uncertain significance |
| rs142613637 | 11:6,422,643 | C/T | — | uncertain significance |
| rs376108082 | 11:6,422,646 | C/T | — | uncertain significance |
| rs184224900 | 11:6,422,860 | G/A | — | uncertain significance |
| rs188642100 | 11:6,422,867 | G/A | — | benign |
| rs200508948 | 11:6,423,343 | G/A | — | uncertain significance |
| rs201361208 | 11:6,423,375 | G/C | — | uncertain significance |
| rs145282654 | 11:6,423,419 | C/T | — | likely benign |
| rs201889999 | 11:6,423,826 | T/C | — | likely benign |
| rs1800425 | 11:6,423,873 | T/C | — | likely benign |
| rs2493874744 | 11:6,423,885 | A/G | — | uncertain significance |
| rs1848586027 | 11:6,423,904 | C/T | — | uncertain significance |
| rs1800424 | 11:6,423,907 | G/A | — | benign |
| rs148143455 | 11:6,423,947 | G/A | — | benign |
| rs142988496 | 11:6,424,605 | C/G | — | likely benign |
| rs1800423 | 11:6,424,610 | T/C | — | likely benign |
| rs144001709 | 11:6,424,903 | C/G | — | uncertain significance |
| rs899676987 | 11:6,431,864 | C/A | — | uncertain significance |
| rs1204460692 | 11:6,431,912 | T/C | — | likely benign |
| rs1178890393 | 11:6,431,940 | C/T | — | uncertain significance |
| rs532235702 | 11:6,431,967 | T/C | — | uncertain significance |
| rs772269224 | 11:6,432,059 | T/G | — | uncertain significance |
| rs150119080 | 11:6,432,089 | A/C | — | likely benign |
| rs760636372 | 11:6,432,106 | C/T | — | uncertain significance |
| rs2493912635 | 11:6,432,108 | G/A | — | uncertain significance |
| rs2682094 | 11:6,432,200 | G/A | — | benign |
| rs1848948767 | 11:6,432,209 | T/G | — | likely benign |
| rs148090907 | 11:6,432,229 | A/T | — | uncertain significance |
| rs748534765 | 11:6,432,246 | T/C | — | uncertain significance |
| rs766650127 | 11:6,432,325 | G/A | — | uncertain significance |
| rs779863777 | 11:6,432,381 | T/C | — | uncertain significance |
| rs763037052 | 11:6,432,423 | C/T | — | uncertain significance |
| rs141737231 | 11:6,432,427 | G/A | — | benign |
| rs147377767 | 11:6,432,629 | G/A | intron variant | — |
| rs75186551 | 11:6,435,338 | C/T | intron variant | — |
| rs77296242 | 11:6,441,070 | G/C | upstream gene variant | — |
| rs75516814 | 11:6,441,145 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.