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Fournisseur:  Bioss
Description:   FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12122R-A680)

Fournisseur:  Bioss
Description:   Voltage-gated sodium channels are selective ion channels that regulate the permeability of sodium ions in excitable cells. During the propagation of an action potential, sodium channels allow an influx of sodium ions, which rapidly depolarizes the cell. Na+ CP type II beta(sodium channel, voltage-gated, type II, beta), also known as SCN2B, is a 215 amino acid single-pass type I membrane protein that plays a critical role in the expression and assembly of the heterotrimeric complex of the sodium channel and interacts with Tenascin-R to influence the clustering and regulation of sodium channels at nodes of Ranvier. Expressed specifically in brain, Na+ CP type II beta contains one Ig-like C2-type (immunoglobulin-like) domain and is encoded by a gene that maps to human chromosome 11q23.3 and mouse chromosome 9 A5.2.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12122R-A555)

Fournisseur:  Bioss
Description:   Voltage-gated sodium channels are selective ion channels that regulate the permeability of sodium ions in excitable cells. During the propagation of an action potential, sodium channels allow an influx of sodium ions, which rapidly depolarizes the cell. Na+ CP type II beta(sodium channel, voltage-gated, type II, beta), also known as SCN2B, is a 215 amino acid single-pass type I membrane protein that plays a critical role in the expression and assembly of the heterotrimeric complex of the sodium channel and interacts with Tenascin-R to influence the clustering and regulation of sodium channels at nodes of Ranvier. Expressed specifically in brain, Na+ CP type II beta contains one Ig-like C2-type (immunoglobulin-like) domain and is encoded by a gene that maps to human chromosome 11q23.3 and mouse chromosome 9 A5.2.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9551R-A350)

Fournisseur:  Bioss
Description:   BEND2 is a 799 amino acid protein that contains two BEN domains. BEND2 exists as two alternatively spliced isoforms and is considered a complete proteome. BEN domain mediates protein–DNA and protein–protein interactions during chromatin organization and transcription. BEN domain may play a role in organization of viral DNA during replication or transcription. The BEND2 gene maps to human chromosome Xp22.13. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The X and Y chromosomes are the human sex chromosomes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. 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.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15167R-A555)

Fournisseur:  Bioss
Description:   C3orf20 (chromosome 3 open reading frame 20), also known as DKFZp434N1817, is a 904 amino acid single-pass membrane protein that exists as two alternatively spliced isoforms. C3orf20 is encoded by a gene that maps to human chromosome 3p25.1. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8578R-A350)

Fournisseur:  Bioss
Description:   GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8578R-A488)

Fournisseur:  Bioss
Description:   GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11227R-A555)

Fournisseur:  Bioss
Description:   Microcephalin modulates brain size and has been proliferating under strong positive selection for several thousand years, although the nature of the positive selection is poorly understood. Human Microcephalin contains three BRCA1 C-terminal (BRCT) domains and shares 57% identity with its mouse ortholog, the most conserved regions being BRCT domains where there is 80% identity. Predominant expression of human Microcephalin is observed in fetal brain, liver and kidney tissues and is expressed during neurogenesis in mice. Microcephalin displays significantly higher rates of protein evolution in primates than in rodents; this trend is most noticeable for the subset of genes associated with nervous system development. Microcephalin has a very young, single nucleotide, polymorphism haplotype associated with modern humans; this gene is presumably still evolving in Homo sapiens. It functions in DNA damage response and regulation of cell cycle checkpoints.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-13322R-A647)

Fournisseur:  Bioss
Description:   Glycosylation of asparagine residues in Asn-X-Ser/Thr motifs in proteins commonly occur in the lumen of the endoplasmic reticulum (ER). Glucosidase I catalyzes the first step in the N-linked oligosaccharide processing pathway. It specifically removes the distal alpha 1,2-linked glucose residue from the Glc3-Man9-GlcNAc2 oligosaccharide precursor. Glucosidase I contains a short cytosolic tail, a single pass transmembrane domain and a large C-terminal catalytic domain located on the luminal side of the ER. Mutations in the gene encoding Glucosidase I result in the congenital disorder glycosylation (CDG-IIb), which is characterized by generalized hypotonia, dysmorphic features, hepatomegaly, hypoventilation, feeding problems, seizures and death. Two point mutations in the Glucosidase I gene have been identified and result in amino acid substitutions, namely Arg486Thr and Phe652Leu, that affect polypeptide folding and active site formation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11166R-A680)

Fournisseur:  Bioss
Description:   Sortilin-related receptor, also known as Sorting protein-related receptor containing LDLR class A (SorLA), is a Type I membrane protein that may be involved in cell-cell interaction. SorLA, a single transmembrane receptor, binds LDL (the main cholesterol-carrying lipoprotein of plasma) and transports it into cells by endocytosis. SorLA is synthesised as a proreceptor which is processed to the mature form by a furin-like propeptidase. It can also bind to RAP, receptor-associated protein. SorLa is a multifunctional endocytis receptor important in lipoprotein and protease uptake. The N-terminal propeptide, which is removed, can be cleaved by furin or homologous proteases. Endogenous sorLA binds the neuropeptide head activator (HA) and is important for HA Signalling and function. It is expressed mainly in brain (cerebral cortex, cerebellum and the occipital pole), but can also be found in liver, spinal cord, kidney, testis and pancreas.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12305R-A350)

Fournisseur:  Bioss
Description:   In eukaryotic cells, the Golgi apparatus receives newly synthesized proteins from the endoplasmic reticulum (ER) and, after covalent modification, delivers them to their destination in the cell. For membrane-directed proteins this process is believed to be carried out via vesicular transport. Correct vesicular transport is determined by specific pairing of vesicle-associated SNAREs (v-SNAREs) with those on the target membrane (t-SNAREs). Unconventional SNARE in the ER 1, also known as USE1 or protein p31, is a 259 amino acid t-SNARE that forms a larger complex with ZW10, RINT-1 and Syntaxin 18. Upon Mg2+-AP treatment in the presence of NSF and ?SNAP, ZW10, RINT-1 and USE1 dissociate from Syntaxin 18. USE1 is a single-pass type IV membrane protein that is localized to the endoplasmic reticulum membrane. Three named isoforms exist for USE1 as a result of alternative splicing events.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-6587R-A680)

Fournisseur:  Bioss
Description:   Function as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Displays also double-stranded DNA 3'-5' exonuclease, 3'-phosphodiesterase activities. Shows robust 3'-5' exonuclease activity on 3'-recessed heteroduplex DNA and is able to remove mismatched nucleotides preferentially. Shows fairly strong 3'-phosphodiesterase activity involved in the removal of 3'-damaged termini formed in DNA by oxidative agents. In the nucleus functions in the PCNA-dependent BER pathway. Required for somatic hypermutation (SHM) and DNA cleavage step of class switch recombination (CSR) of immunoglobulin genes. Required for proper cell cycle progression during proliferation of peripheral lymphocytes.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15573R)

Fournisseur:  Bioss
Description:   Ig delta chain C region is an allelic product of the human IGHD gene. The two known IGHD alleles, IGHD*01 and IGHD*02, respectively produce isoforms 1, a secreted protein, and 2, a single-pass type I membrane protein. A member of the adaptive immune system, IgD are monomers expressed by activated B cells. Containing 3 Ig-like (immunoglobulin-like) domains, IgD chain C is located on chromosome 14 within the human heavy chain locus, lying on the 3’ side of the IgM chain C region from the V-D-J cassette. Polyadenylation at certain sites along the heavy chain locus likely effects the mechanism that determines the alternative splicing event which results in the expression of either IgD chain C or IgM chain C. Some studies have suggested that antigenic coactivation of IgD+ B cells can have a negative influence on bone resorption during infectious events.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8578R-CY5)

Fournisseur:  Bioss
Description:   GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8578R-A680)

Fournisseur:  Bioss
Description:   GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
UOM:  1 * 100 µl
Fournisseur:  Biotium
Description:   Recognizes a protein of 18-35 kDa, identified as CD90 (also known as Thy1). CD90 is a member of the immunoglobulin superfamily. It may contribute to inhibition of proliferation/differentiation of hematopoietic stem cells and neuron memory formation in the CNS. It consists of a single Ig domain (112 amino acids; 25-35 kDa) inserted into the cell membrane via a GPI anchor. Expressed by hematopoietic stem cells and neurons in all species studied. Its highly expressed in connective tissue and various fibroblast and stromal cell lines, expressed on all thymocytes and peripheral T cells in mice, but in humans expressed only on small % fetal thymocytes, 10-40% of CD34 cells in bone marrow, and <1% of CD3 CD4 lymphocytes in peripheral circulation. It is also expressed by human lymph node HEV endothelium but not other endothelia. Lastly, it is expressed by a limited number of lymphoblastoid and leukemic cell lines.
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