Tästä geenirykelmästä on myös uutinen APOBEC3A geenitiedon kohdalla. Otan siteerauksen geenipankista. On varmistettu yhteydet tämän geenin ja sairauksine välillä: hepatiitti Bvirusinfektio ja psoriasis.
Tuossa kun selasin vaatimatonta kromosomivihkoni karttaa, huomasin että kromosomissa 22 ei ollut TRIM-geenejä, mutta sensijaan siinä on koko APOBEC-rykelmä, kaikki ne 7 päägeeniä ja lisäksi siinä on pseudogeenejä. Ne sijoittuvat alueelle Kr. 22 q13.1-q13.2
http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOBEC3A
Entrez Gene summary for APOBEC3A Gene:
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, byrestricting 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 encodingdifferent isoforms have been found for this gene. (provided by RefSeq, Jul 2012)
GeneCards Summary for APOBEC3A Gene: 
APOBEC3A (apolipoprotein B mRNA editing enzyme, catalytic
polypeptide-like 3A) is a protein-coding gene. Diseases associated with
APOBEC3A include hepatitis b virus infection, and psoriasis. GO annotations related to this gene include cytidine deaminase activity and deoxycytidine deaminase activity. An important paralog of this gene is APOBEC3G.
UniProtKB/Swiss-Prot: ABC3A_HUMAN, P31941 |
Function: DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility ofretrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T-cell leukemia virustype 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-strandedDNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclearand mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process ofactive DNA demethylation
Gene Wiki entry for APOBEC3A Gene |
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