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Catalog Number: (BOSSBS-13575R-A350)
Supplier: Bioss
Description: Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13575R-A680)
Supplier: Bioss
Description: Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13112R-A647)
Supplier: Bioss
Description: Ethanolamine kinase 2, also known as EKI2, ETNK2 or HMFT1716, is a 386 amino acid protein that belongs to the choline/ethanolamine kinase family. Via the cytidine diphosphate (CDP) ethanolamine pathway, Ethanolamine kinase 2 catalyses the initial step of phosphatidylethanolamine (PtdEtn) biosynthesis. Ethanolamine kinase 2 is expressed in kidney, liver, testis, ovary and prostate, and is highly specific for ethanolamine phosphorylation. Upregulated during testis development, Ethanolamine kinase 2 may play an essential role in regulating placental hemostasis. Existing as three alternatively spliced isoforms, the gene encoding Ethanolamine kinase 2 maps to human and mouse chromosome 1. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13234R-A488)
Supplier: Bioss
Description: The mammalian FXYD family maintains Na+ and K+ gradients between the intracellular and extracellular milieus of cells in processes such as renal Na+-reabsorption, muscle contraction and neuronal excitability. FXYDs are single-span membrane proteins that share a 35 amino acid signature domain, beginning with the sequence PFXYD and containing seven invariant and six conserved amino acids. Members of the FXYD family include FXYD1 (PLM, phospholemman), FXYD2 (the g subunit of the Na+/K+-ATPase), FXYD3 (Mat8, mammary tumor protein), FXYD4 (CHIF) and FXYD5 (RIC). FXYD6 is expressed in various epithelial cells bordering the endolymph space and in the auditory neurons. FXYD6 co-localizes with Na+/K+-ATPase in the stria vascularis and can be co-immunoprecipitated with Na+/K+-ATPase. After expression, FXYD6 associates with Na+/K+-ATPase alpha1-beta1 and alpha1-beta2 isozymes, which are preferentially expressed in different regions of the inner ear and also with gastric and non-gastric H+/K+-ATPase.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-10041R-CY5)
Supplier: Bioss
Description: Glycophorins A, B and C are sialoglycoproteins of the human erythrocyte membrane, which bear the antigenic determinants for the MN, Ss and Gerbich blood groups, respectively. Glycophorins span the membrane once and present their amino-terminal end to the extracellular surface of the human erythrocyte. The genetic array of expressed glycophorin surface antigens on erythrocytes defines the blood group phenotype of the individual. The human Glycophorin A gene maps to chromosome 4q31.21, contains seven exons which are 97% homologous to Glycophorin B, and encodes a 150 amino acid protein. The human Glycophorin B gene maps to chromosome 4q31.21 and encodes a 91 amino acid protein. The human Glycophorin C gene maps to chromosome 2q14.3 and contains four exons. Glycophorin C transcript can generate two protein isoforms. Isoform 1 includes all 4 exons and encodes the full length 128 amino acid protein. Isoform 2 is missing exon 2 and encodes a 109 amino acid protein, which specifies the Yus subtype of the Gerbich phenotype.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-15066R)
Supplier: Bioss
Description: C1orf43, also known as Hepatitis C virus NS5A-transactivated protein 4 and Protein NICE-3, is a 253 amino acid single-pass membrane protein. There are five isoforms of C1orf43 that are produced as a result of alternative splicing events. The gene encoding C1orf43 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9262R-CY5.5)
Supplier: Bioss
Description: The RING finger motif is a specialized DNA-binding zinc finger domain found in many transcriptional regulatory proteins. The ring finger protein (RNF) family includes any protein containing the signature RING finger motif. RNF186 (RING finger protein 186) is a 227 amino acid multi-pass membrane protein containing one RING-type zinc finger. The gene encoding RNF186 maps to human chromosome 1p36.13. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9262R-CY7)
Supplier: Bioss
Description: The RING finger motif is a specialized DNA-binding zinc finger domain found in many transcriptional regulatory proteins. The ring finger protein (RNF) family includes any protein containing the signature RING finger motif. RNF186 (RING finger protein 186) is a 227 amino acid multi-pass membrane protein containing one RING-type zinc finger. The gene encoding RNF186 maps to human chromosome 1p36.13. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9181R-A680)
Supplier: Bioss
Description: Repetin is a 784 amino acid secreted protein that belongs to the S100-fused protein family. Repetin is an extracellular epidermal matrix protein that is expressed in the epidermis and at high levels in eccrine sweat glands, the inner sheaths of hair roots and the filiform papilli of the tongue. A multifunctional epidermal matrix protein, repetin is involved in the cornified cell envelope formation. Containing two EF-hand domains, repetin?s recombinant N-terminal domain binds calcium reversibly. Repetin and trichohyalin may compensate for absent loricrin. The repetin gene contains three exons, two introns and spans at least 5.6 kb. The repetin gene is conserved in cow, mouse and rat, and maps to human chromosome 1q21.3.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13171R-HRP)
Supplier: Bioss
Description: The FHAD1 gene encodes a 1,420 amino acid protein and maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13171R-A555)
Supplier: Bioss
Description: The FHAD1 gene encodes a 1,420 amino acid protein and maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11708R-A647)
Supplier: Bioss
Description: ATP13A2 is a 1,180 amino acid multi-pass membrane protein that belongs to the P5 subfamily of ATPases which play an important role in the transportation of inorganic cations. Expressed as multiple alternative spliced isoforms, ATP13A2 functions to catalyze the conversion of ATP to ADP and a free phosphate, thereby participating in the active transport of ions across cellular membranes. Defects in the gene encoding ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS), a rare hereditary type of Parkinson’s disease that exhibits juvenile onset and is characterized by neurodegeneration and dementia. The ATP13A2 gene maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9667R-A350)
Supplier: Bioss
Description: DENND2C is a 928 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as three isoforms as a result of alternative splicing. The DENND2C protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2C maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9667R-HRP)
Supplier: Bioss
Description: DENND2C is a 928 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as three isoforms as a result of alternative splicing. The DENND2C protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2C maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13379R-A488)
Supplier: Bioss
Description: GLT25D2 is a 626 amino acid protein that localizes to endoplasmic reticulum lumen and belongs to the glycosyltransferase 25 family. Possessing beta-galactosyltransferase activity, GLT25D2 transports beta-galactose to hydroxylysine residues on collagen but lacks glucosyltransferase activity. GLT25D2 is expressed in skeletal muscle and brain, and is encoded by a gene located on human chromosome 1q25.3, a region associated with the hereditary prostate cancer (HPC1) locus. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13379R-A555)
Supplier: Bioss
Description: GLT25D2 is a 626 amino acid protein that localizes to endoplasmic reticulum lumen and belongs to the glycosyltransferase 25 family. Possessing beta-galactosyltransferase activity, GLT25D2 transports beta-galactose to hydroxylysine residues on collagen but lacks glucosyltransferase activity. GLT25D2 is expressed in skeletal muscle and brain, and is encoded by a gene located on human chromosome 1q25.3, a region associated with the hereditary prostate cancer (HPC1) locus. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.
UOM: 1 * 100 µl


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Stock for this item is limited, but may be available in a warehouse close to you. Please make sure that you are logged in to the site so that available stock can be displayed. If the call is still displayed and you need assistance, please call us on +353 1 88 22222.
This product is marked as restricted and can only be purchased by approved Shipping Accounts. If you need further assistance, email VWR Regulatory Department at eurega_services@eu.vwr.com
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