α-amylase catalyzes the cleavage of 1, 4-α-D-glucosidic bonds in oligosaccharides and polysaccharides. The enzyme is normally produced and secreted in salivary glands (salivary α-amylase or AMY1) and pancreas (pancreatic α-amylase or AMY2A). Studies reported the release of an ectopically expressed α-amylase in certain tumors. Furthermore, a new type of α-amylase (carcinoid α-amylase or AMY2B) was identified in a lung carcinoid tissue. The ectopic expression of α-amylase in a neuroendocrine tumor was also reported.
This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind toThe acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others formThe protein basis ofThe amyloid plaques found inThe brains of patients with Alzheimer disease. In addition, two ofThe peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene.
Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation. Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.9 Publications Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS).
Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1. In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal. Involved in the regulation of lymphangiogenesis.
Angiotensin II (Ang II),the main effector molecule of the renin-angiotensin system,exerts its actions mainly via interaction with type-1 angiotensin II receptor (AGTR1,also named as AT1R),thereby contributing to blood pressure regulation. AGTR1 mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. By regulating vascular tone,cardiovascular function,salt and water homeostasis,AGTR1 exerts an indispensable physiological role . AGTR1 has been implicated in diverse aspects of human disease,from the regulation of blood pressure and cardiovascular homeostasis to cancer progression .
Expressed by the liver and secreted in plasma.
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