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

rsidPosition (GRCh37)AllelesClassClinVar
rs77966539922:39,355,620T/Auncertain significance
rs86733693422:39,355,623G/Auncertain significance
rs55160928522:39,355,643T/Clikely benign
rs76380367322:39,357,422C/Tlikely benign
rs75361966922:39,357,423G/Auncertain significance
rs56434249922:39,358,187C/Auncertain significance
rs74684856122:39,358,204C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.