APOBEC3A
apolipoprotein B mRNA editing enzyme catalytic subunit 3A
Summary
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779665399 | 22:39,355,620 | T/A | — | uncertain significance |
| rs867336934 | 22:39,355,623 | G/A | — | uncertain significance |
| rs551609285 | 22:39,355,643 | T/C | — | likely benign |
| rs763803673 | 22:39,357,422 | C/T | — | likely benign |
| rs753619669 | 22:39,357,423 | G/A | — | uncertain significance |
| rs564342499 | 22:39,358,187 | C/A | — | uncertain significance |
| rs746848561 | 22:39,358,204 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.