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Numéro de catalogue: (BOSSBS-9551R-A647)

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

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-13209R-A350)

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-9743R-A555)

Fournisseur:  Bioss
Description:   Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKLE2 (ankyrin repeat and LEM domain containing 2), also known as LEMD7, is a 938 amino acid single-pass membrane protein containing an ANK repeat and a LEM domain. Exsiting as two isoforms produced by alternative splicing events, the gene encoding ANKLE2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.
UOM:  1 * 100 µl

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-15573R-A555)

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-15312R-A488)

Fournisseur:  Bioss
Description:   C9orf135 (chromosome 9 open reading frame 135) is a 229 amino acid single-pass membrane protein encoded by a gene that maps to human chromosome 9q21.11. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12333R-CY3)

Fournisseur:  Bioss
Description:   ERMAP is a single-pass type one membrane protein that belongs to the immunoglobulin superfamily. Expressed in cord blood, fetal liver and adult bone marrow, ERMAP is thought to function as a cell adhesion molecule in erythroid cells and is responsible for expression of the Scianna/Radin (Sc/Rd) blood group antigen system. The Sc/Rd system is comprised of seven antigens that are present on the surface of red blood cells and have a variety of functions ranging from protein transport to cell adhesion. These seven blood antigens can differ in their expression within a population and may sometimes differ between mother and child. A fetus expressing different blood antigens than its mother may cause the mother to produce against the fetal blood. This condition is known as hemolytic disease of the newborn (HDN) and is characterized by jaundice, anemia and in some cases, infant death.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12333R-CY7)

Fournisseur:  Bioss
Description:   ERMAP is a single-pass type one membrane protein that belongs to the immunoglobulin superfamily. Expressed in cord blood, fetal liver and adult bone marrow, ERMAP is thought to function as a cell adhesion molecule in erythroid cells and is responsible for expression of the Scianna/Radin (Sc/Rd) blood group antigen system. The Sc/Rd system is comprised of seven antigens that are present on the surface of red blood cells and have a variety of functions ranging from protein transport to cell adhesion. These seven blood antigens can differ in their expression within a population and may sometimes differ between mother and child. A fetus expressing different blood antigens than its mother may cause the mother to produce against the fetal blood. This condition is known as hemolytic disease of the newborn (HDN) and is characterized by jaundice, anemia and in some cases, infant death.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15312R-HRP)

Fournisseur:  Bioss
Description:   C9orf135 (chromosome 9 open reading frame 135) is a 229 amino acid single-pass membrane protein encoded by a gene that maps to human chromosome 9q21.11. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9025R-CY5.5)

Fournisseur:  Bioss
Description:   The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8578R-CY7)

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:  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-11504R-CY7)

Fournisseur:  Bioss
Description:   ATRNL1 is a 1,379 amino acid single-pass type I membrane protein that may play a role in melanocortin signaling pathways that regulate energy homeostasis. The ATRNL1 protein contains a C-type lectin domain, a CUB domain, two EGF-like domains, six Kelch repeats, two laminin EGF-like domains and five PSI domains. ATRNL1 interacts with MC4-R in several regions known to be important in the regulation of energy homeostasis by melanocortins, such as the paraventricular nucleus of hypothalamus and the dorsal motor nucleus of the vagus. The ATRNL1 gene is conserved in dog, cow, mouse, rat, chicken, zebrafish and C. elegans, exists as two alternatively spliced isoforms and maps to human chromosome 10q25.3. Strong evidence of linkage to late-onset Alzheimer disease (LOAD) is linked to chromosome 10, which implicates a wide region and at least one disease-susceptibility locus.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-13322R-A555)

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-8381R-CY5.5)

Fournisseur:  Bioss
Description:   Ubiquitination is an important molecular mechanism by which abnormal or short-lived proteins are targeted for degradation by the concerted efforts of at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). UBE2J2 (Ubiquitin-conjugating enzyme E2 J2), also known as NCUBE2 (Non-canonical ubiquitin-conjugating enzyme 2), is a 259 amino acid single pass type IV membrane protein that that belongs to the E2 ubiquitin-conjugating enzyme family and is involved in protein degradation. Localized to the membrane of the endoplasmic reticulum (ER), UBE2J2 catalyzes the attachment of ubiquitin to misfolded membrane proteins, thereby targeting them for proteasomal destruction. This ATP-dependent reaction yields AMP, a diphosphate and a ubiquitin-tagged protein and may be a method of quality control within the ER. Two isoforms of UBE2J2 exist due to alternative splicing events.
UOM:  1 * 100 µl
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