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ASGR is a heterooligomeric receptor that is abundantly expressed on the sinusoidal surface of the hepatic plasma membrane. It is an endocytic receptor that rapidly binds and internalizes galactose-terminated glycoproteins (asialoglycoproteins or ASGP) from the circulation. The mouse ASGPR belongs to the long-form subfamily of the C-type/Ca2+ dependent lectin family. It is a complex of two noncovalently-linked and highly homologous subunits, a major 42 kDa glycoprotein ASGPR1(MHL-1) and a min

Transcription factors of the basic helix-loop-helix zipper (bHLH-ZIP) family contain a basic domain, used for DNA binding, and HLH and ZIP domains, both used for oligomerization. TFEB was isolated from a human B-cell cDNA library using a binding sequence from the adenovirus major late promoter. This transcription factor probably binds to the USF/MLTF site and probably recognizes E-box sequences in the heavy-chain immunoglobulin enhancer.

This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically e

Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene ａ

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah ａn