ADARB1 Chromosome 21
Adenosine deaminase RNA specific B1
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What This Gene Does
This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Adenosine deaminases acting on RNA
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000197381
Associated Conditions (3)
Neurodevelopmental disorder with hypotonia
microcephaly
and seizures
Key Variants
RS146201109
Conflicting classifications of pathogenicity
Health Risk
RS1323703791
Pathogenic
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Health Risk
RS1364071684
Pathogenic
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Health Risk
RS2091682680
Pathogenic
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Health Risk
RS2092054613
Pathogenic
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Health Risk
RS2518003515
Pathogenic
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Health Risk
RS2518287411
Pathogenic
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146201109 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1323703791 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
| RS1364071684 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
| RS2091682680 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
| RS2092054613 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
| RS2518003515 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
| RS2518287411 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |