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This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subseque

This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B

DNA replication, recombination and repair, all of which are necessary for genomic stability, require the presence of exonucleases (1). In DNA replication, these enzymes are involved in the processing of Okazaki fragments, whereas in DNA repair, they function to excise damaged DNA fragments and correct recombinational mismatches (2). These exonucleases include the family of DNA polymerases (3). DNA pol α, β, ?, and e are involved in DNA replication and repair (4). DNA pol ? and DNA pol

Pbx 1, 2, 3 and 4 are members of the TALE (three amino acid loop extension) family of homeodomain-containing proteins. Human pre-B cell acute leukemias are frequently associated with a t(1;19)(q23;p13.3) chromosomal rearrangement, which creates a chimeric gene encoding a fusion between the E2A and Pbx 1 gene products. Pbx 2 and Pbx 3 share 92% and 94% respective identities with Pbx 1 over a 266 amino acid region flanking their homeobox domains, while all three proteins are quite divergent a

Microtubules mediate the spatial organization of diverse membrane-trafficking systems. The HOOK proteins, HOOK1, HOOK2 and HOOK3, comprise a family of cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules; and more divergent C-terminal domains, which mediate binding to organelles. HOOK1, a cytoskeletal linker protein, may play a role in endocytic membrane trafficking. It exists as a homodimer, most likely mediated through its central coiled-coi

The temporal genetic hierarchy influencing normal limb development can deregulate and mediate mammalian developmental syndromes. In mice, the limb deformity (ld) locus influences normal limb development and gives rise to alternative mRNAs that can translate into a family of proteins known as formins. Formins play a crucial role in cytoskeletal reorganization by influencing Actin filament assembly. Formins co-localize with the actin cytoskeleton and can translocate into the cell cytosol and