ATAD3B Chromosome 1
ATPase family AAA domain containing 3B
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What This Gene Does
The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"AAA ATPases|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000160072
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141143061 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148810475 | Health Risk | Conflicting classifications of pathogenicity | — |