Description
Product Characteristics:
BAALC is a 180 amino acid protein that localizes to both the membrane and the cytoplasm and exists as multiple alternatively spliced isoforms. Expressed by hematopoetic and neural cells, BAALC interacts with CaMKII and is thought to play a role in synaptic function at postsynaptic lipid rafts. BAALC may be overexpressed in acute myeloid leukemia (AML), suggesting a role in tumorigenesis. The gene encoding BAALC maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that maps to chromosome 8.
Synonyms: BAALC, BAALC_HUMAN, Brain and acute leukemia cytoplasmic, Brain and acute leukemia cytoplasmic protein, brain and acute leukemia, cytoplasmic, FLJ12015.
Target Information: This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene\, however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]