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Description:
The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unsual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome. The FAM104B gene product has been provisionally designated FAM104B pending further characterization.
Description:
Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The FAM101A gene product has been provisionally designated FAM101A pending further characterization.
Description:
The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Binds to the C-terminus of CDKN1A and thereby mediates its degradation. Negatively regulates the membrane trafficking of the cell-surface thromboxane A2 receptor (TBXA2R) isoform 2.
Description:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008].
Description:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].
Description:
Voltage-gated K+ channels in the plasma membrane are important regulators of electrical signaling, controlling the repolarization and the frequency of action potentials in neurons, muscles and other excitable cells. KCNT2 is a 1,135 amino acid multi-pass transmembrane protein belonging to the potassium channel family (calcium-activated subfamily) of proteins. KCNT2 produces rapidly activating outward rectifier potassium currents in reponse to high intracellular sodium and chloride levels. Its channel activity is inhibited by ATP, inhalation anesthetics, such as isoflourane, and upon stimulation of G-protein coupled receptors, such as mAChR M1 and GluR-1. There are four isoforms of KCNT2 that are produced as a result of alternative splicing events.
Description:
The KIR family of potassium channels possess a greater tendency to allow potassium to flow into the cell rather than out of it. Kir4.1, also known as Kir1.2, is highly expressed in brain including glial cells, astrocytes and cortical neurons. Kir4.1 is also expressed in myelin-synthesizing oligodendrocytes and is crucial to myelination in the developing nervous system. The gene encoding human Kir4.1 maps to chromosome 1. Kir4.2, also known as Kir1.3, is expressed in kidney, lung, heart, thymus and thyroid during development. The gene encoding human Kir4.2 maps to chromosome 21 in the Down syndrome chromosome region 1, and Kir4.2 may play a role in the pathogenesis of Down’s syndrome. Kir 5.1 forms functional channels only by coexpression with either Kir4.1 or Kir4.2 in the kidney and pancreas. The gene encoding human Kir5.1 maps to chromosome 17.
Description:
DBX2 is a 339 amino acid member of the H2.0 homeobox family. DBX2, which is localized to the nucleus, contains one homeobox DNA-binding domain, a region of 60 amino acids that binds DNA through a helix-turn-helix type of structure. DBX2, which is expressed in the forebrain, midbrain, hindbrain and spinal cord, has been implicated in CNS development.Specifically, DBX2 has been shown to play a role in spinal cord dorsal/ventral patterning, as well as the regionalization of the CNS. DBX2 is also thought to play a role in the production of multiple spinal cord cell types.
Description:
FDPS is a 419 amino acid enzyme belonging to the FPP/GGPP synthetase family. Localized to cytoplasm and peroxisome, FDPS expression is regulated by phorbol esters and polyunsaturated fatty acids. FDPS assists in cholesterol biosynthesis, post-translational protein modifications and synthesis of steroid hormones in the isoprenoid pathway.FDPS catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FDPS is inactivated by interferon-induced RSAD2, which may result in the disruption of lipid rafts at the plasma membrane. Existing as a homodimer, FDPS may have anti-viral effects when inactivated by RSAD2. Reduced activity of FDPS in liver may partly be the cause of Zellweger syndrome and neonatal adrenoleukodystrophy, both of which are known to be peroxisomal deficiency diseases.
Description:
The synaptogyrin family of proteins are integral membrane proteins containing four transmembrane regions. Synaptogyrins are tyrosine-phosphorylated proteins with two neuronal isoforms (Synaptogyrin-1 and -3) and one ubiquitous isoform (Synaptogyrin-2). Synaptophysin and synaptogyrin represent the major constituents of synaptic vesicles. Synaptogyrin-1 is associated with presynaptic vesicles in neuronal cells. Synaptogyrin-2, also known as cellugyrin, has a tyrosine phosphorylated C-terminal cytoplasmic tail and is involved in the regulation of membrane traffic in non-neuronal cells. Synaptogyrin-3 is expressed mainly in brain and placenta. Synaptogyrin-4 is a 234 amino acid protein encoded by the SYNGR4 gene.
Description:
GCX-1 is a 488 amino acid transcription activator that is restricted to expression in the hypothalamus, pituitary, ovary, testis and uterus.Human reproduction is controlled by the hypothalamic-pituitary gonadal axis (HPGA) that is laid down early in fetal development. This expression pattern in the HPGA suggests that this nuclear protein is likely related to specific events in reproduction, particularly in the female. GCX-1 contains a HMG-box domain, which is commonly found in proteins that function as intercellular regulators and transcriptional co-regulators, and are found to be involved in important events such as sex determination and in the regulation of T cell differentiation. There are two isoforms of GCX-1 which are produced as a result of alternative splicing events.
Description:
Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP3, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1-p44/MAPK3 and of p9RSK/RPS6KA1 during myogenic differentiation. Plays an important role in the timely initiation of centrosome duplication. Inhibits keratinocyte terminal differentiation. May regulate closure of the eyelids and ventral body wall through organization of actomyosin bundles. Plays a critical role in the regulation of spine and synaptic properties in the hippocampus. Plays an important role in generating the circadian rhythm of the aortic myofilament Ca(2+) sensitivity and vascular contractility by modulating the myosin light chain phosphorylation.
Description:
AAMP is a 434 amino acid immunoglobulin-like protein that contains 8 WD repeats. Expressed in endothelial cells, cytotrophoblasts and blood vessels, AAMP is thought to have a heparin-sensitive role in cell adhesion and cell migration. AAMP is strongly expressed in poorly differentiated colon adenocarcinoma cells, suggesting a role for AAMP in tumor progression.
Description:
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
UOM:
1 * 100 µl
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