ANKS1B Chromosome 12
Ankyrin repeat and sterile alpha motif domain containing 1B
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What This Gene Does
This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Sterile alpha motif domain containing"
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000185046
Associated Conditions (1)
ANKS1B-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200534823 | Health Risk | Conflicting classifications of pathogenicity | ANKS1B-related disorder, ANKS1B-related disorder |
| RS1229498461 | Health Risk | Likely pathogenic | — |