Aliases for ANKS1B Gene
External Ids for ANKS1B Gene
Previous GeneCards Identifiers for ANKS1B Gene
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]
GeneCards Summary for ANKS1B Gene
ANKS1B (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B) is a Protein Coding gene. Diseases associated with ANKS1B include Osteogenesis Imperfecta, Type Xv and Alzheimer Disease. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include ephrin receptor binding. An important paralog of this gene is ANKS1A.
UniProtKB/Swiss-Prot Summary for ANKS1B Gene
Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.
Isoform 3 can regulate global protein synthesis by altering nucleolar numbers.
Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.