Gastric intrinsic factor, also known as GIF, belongs to the of the cobalamin transport protein family. It is a glycoprotein produced by the parietal cells of the stomach. Gastric intrinsic factor plays a key role in the absorption of vitamin B12 on in the small intestine. Vitamin B12 bounds to haptocorrin after entry into the stomach. The resulting complex enters the duodenum, where pancreatic enzymes digest haptocorrin. In the less acidic environment of the small intestine, B12 can then bind to gastric intrinsic factor. This new complex travels to the ileum, where special epithelial cells endocytose them. Inside the cell, B12 dissociates once again and binds to another protein, transcobalamin II. The new complex can exit the epithelial cells to enter the liver.
Gastric Mucin-6 is a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. Mucin-6 is secreted and forms an insoluble mucous barrier that protects the gut lumen.
GATA1 is the founding member of the GATA family and is required for erythroid and megakaryocytic cell development. Mutations in the corresponding GATA1 gene are linked to many human diseases, including acute megakaryoblastic leukemia in Down Syndrome children (DS-AMKL), X-linked thrombocytopenia, and gray platelet syndrome.
Trans-acting T-cell-specific transcription factor GATA-3 belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology.
The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Beta-Glucosylceramidase (β-GC) is a lysosomal enzyme that catalyzes the hydrolysis of glucocerebroside into free ceramide and glucose. Lysosomal breakdown of glucocerebroside is required for cellular metabolism of complex lipids and proper turnover of cellular membrane. In the absence of GBA, the gene that encodes β-GC, autophagic lysosome reformation is altered, suggesting that β-GC activity is critical to maintain functional lysosomes. The cellular function of lysosomes is to degrade and recycle cellular waste to maintain proper cellular energy metabolism. Mutations in human GBA cause deficiency in β-GC, resulting in the accumulation of lysosomal glucocerebroside. Macrophages are particularly sensitive to lysosomal glucocerebroside accumulation due to their role in phagocytosis-mediated breakdown of cellular debris and dying cells. Gaucher disease, a rare autosomal recessive lysosomal storage disorder that is genetically linked to GBA, is marked by engorged “Gaucher cell” macrophages in the spleen, liver, and bone marrow. GBA mutations are the most common genetic risk factor for Parkinson’s disease (PD), a neurodegenerative disease characterized by the loss of dopaminergic neurons in the substantia nigra with formation of α-synuclein-rich Lewy bodies in surviving neurons. GBA mutations may play a direct role in accumulation of α-synuclein by mechanisms that are poorly understood, but may include mislocalization of lysosomal β-GC causing impaired lysosomal degradation of α-synuclein.
Gross cystic disease fluid is a pathologic secretion from breast composed of several glycoproteins, including a unique 15,000-dalton monomer protein, GCDFP-15. Numerous histopathologic studies have shown GCDFP-15 (BRST-2) to be a specific marker for breast cancer in surgical specimens.
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