Gene Symbol | ANKS1B |
Entrez Gene ID | 56899 |
Full Name | ankyrin repeat and sterile alpha motif domain containing 1B |
Synonyms | AIDA,AIDA-1,ANKS2,EB-1,EB1,cajalin-2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: |