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 olltu TRIM-geenejä, muta 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 acluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that arestructurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded bythis 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 offoreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are alsothought 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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