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Product CategoryThis gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, N
This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. T
The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
Actin polymerization is required for a variety of cell functions, including chemotaxis, cell migration, cell adhesion, and platelet activation. Cells trigger actin polymerization through either the de novo nucleation of filaments from monomeric actin, the severing of existing filaments to create uncapped barbed ends, or the uncapping of existing barbed ends. The nucleation of actin is a rate-limiting and unfavorable reaction in actin polymerization and therefore requires the involvement of t
The inhibin beta B subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumour-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-speci
ESE-1, a member of the Ets family of transcription factors, critically regulates epithelial cell differentiation and mediates vascular inflammation. ESE-1 is strongly expressed in vascular endothelium and smooth muscle cells where it is induced in response to inflammatory cytokines and lipopolysaccharides, interacts with NF-KappaB to induce nitric oxide synthase, and is induced during terminal differentiation of epidermal and primary keratinocytes. In addition, ESE-1 is upregulated upon di