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This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript varia

The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized eryth

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addi

Adaptins are heterotetrameric subunits of adaptors, which are complexes involved in the formation of Clathrin-coated pits for vesicle-mediated endocytosis. Clathrin and its associated heterotetrameric protein complexes make up the main protein components of the coat surrounding the cytoplasmic face of coated vesicles. The Adaptin family, comprising a, b, and g classes, is also responsible for the transport of ligand-receptor complexes from plasma membranes and the trans-Golgi network to lyso

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolys

Fanconi Anemia (FANC) is a human autosomal-recessive cancer susceptibility disorder characterized by congenital defects, progressive bone marrow failure, and cellular hypersensitivity to mitomycin C (MMC). The FANC subunit D2 protein is vital for cellular resistance to DNA cross-linking and the arrest of DNA synthesis after ionizing radiation. DNA damage activates the monoubiquitination of FANC D2, targeting nuclear foci containing the BRCA 1 protein.