APOBEC3B Chromosome 22

Apolipoprotein B mRNA editing enzyme catalytic subunit 3B
1 variant 1 Health Risk

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What This Gene Does
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. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
"Apolipoprotein B mRNA editing enzyme catalytic subunits|Minor histocompatibility antigens"
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000179750
Associated Conditions (1)
APOBEC3B-related condition
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS147545511 Health Risk Conflicting classifications of pathogenicity APOBEC3B-related condition, APOBEC3B-related condition
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