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Catalog Number: (BOSSBS-5371R-A680)
Supplier: Bioss
Description: PMVK is a 192 amino acid peroxisomal enzyme belonging to the nucleoside monophosphate (NMP) kinase family and is expressed in heart, liver, skeletal muscle, kidney, and pancreas with lower expression in brain, placenta and lung. Induced by sterol, PMVK participates in isopentenyl diphosphate biosynthesis via the mevalonate pathway. PMVK catalyses the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate in the fifth reaction of the cholesterol biosynthetic pathway. PMVK exists as a monomer and is encoded by a gene located on human chromosome 1, which houses over 3,000 genes and is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-5371R-HRP)
Supplier: Bioss
Description: PMVK is a 192 amino acid peroxisomal enzyme belonging to the nucleoside monophosphate (NMP) kinase family and is expressed in heart, liver, skeletal muscle, kidney, and pancreas with lower expression in brain, placenta and lung. Induced by sterol, PMVK participates in isopentenyl diphosphate biosynthesis via the mevalonate pathway. PMVK catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate in the fifth reaction of the cholesterol biosynthetic pathway. PMVK exists as a monomer and is encoded by a gene located on human chromosome 1, which houses over 3,000 genes and is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-5371R)
Supplier: Bioss
Description: PMVK is a 192 amino acid peroxisomal enzyme belonging to the nucleoside monophosphate (NMP) kinase family and is expressed in heart, liver, skeletal muscle, kidney, and pancreas with lower expression in brain, placenta and lung. Induced by sterol, PMVK participates in isopentenyl diphosphate biosynthesis via the mevalonate pathway. PMVK catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate in the fifth reaction of the cholesterol biosynthetic pathway. PMVK exists as a monomer and is encoded by a gene located on human chromosome 1, which houses over 3,000 genes and is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-15075R-A680)
Supplier: Bioss
Description: Belonging to the CAF17 subfamily of the gcvT family, C1orf69 is a 356 amino acid mitochondrial protein that is required for normal heme synthesis. Heme synthesis is dependent upon receiving iron through iron sulfur (Fe-S) cluster biogenesis proteins such as C1orf69, which is specifically thought to assemble Fe-S clusters for mitochondrial aconitase and lipoate synthase. In zebrafish, deficiency of C1orf69 causes anemia. The gene encoding C1orf69 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.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12382R-A350)
Supplier: Bioss
Description: EYA3 is a 573 amino acid protein that localizes to both the nucleus and the cytoplasm and is one of several mammalian homologs of the Drosophila Eya (eyes absent) protein. Existing as two alternatively spliced isoforms, EYA3 possesses magnesium-catalyzed phosphatase activity and is thought to play a role in transcriptional regulation during organogenesis. Specifically, EYA3 interacts with proteins such as Six1 and, via this interaction, functions to activate the expression of genes that are involved in cellular proliferation and organ development. Upon DNA damage, EYA3 may be phosphorylated by ATM or ATR. The gene encoding EYA3 maps to chromosome 1, which spans about 260 million base pairs and comprises nearly 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12382R-CY3)
Supplier: Bioss
Description: EYA3 is a 573 amino acid protein that localizes to both the nucleus and the cytoplasm and is one of several mammalian homologs of the Drosophila Eya (eyes absent) protein. Existing as two alternatively spliced isoforms, EYA3 possesses magnesium-catalyzed phosphatase activity and is thought to play a role in transcriptional regulation during organogenesis. Specifically, EYA3 interacts with proteins such as Six1 and, via this interaction, functions to activate the expression of genes that are involved in cellular proliferation and organ development. Upon DNA damage, EYA3 may be phosphorylated by ATM or ATR. The gene encoding EYA3 maps to chromosome 1, which spans about 260 million base pairs and comprises nearly 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13171R-CY7)
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-CY3)
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)
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-9667R)
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-11708R-A680)
Supplier: Bioss
Description: ATP13A2 is a 1180 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 catalyse 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 characterised by neurodegeneration and dementia. The ATP13A2 gene maps to human chromosome 1, which spans 260 million base pairs, contains over 3000 genes and comprises nearly 8% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11708R-A488)
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-13171R-A647)
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-9667R-A555)
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-15474R-A750)
Supplier: Bioss
Description: HHAT is a 493 amino acid multi-pass membrane protein that localises to the endoplasmic reticulum and belongs to the membrane-bound acyltransferase family. Expressed ubiquitously, HHAT functions to catalyse the N-terminal palmitoylation of SSH (slingshot homolog), an event that is required for SHH signaling pathways. HHAT is expressed in cancer cell lines, suggesting a role for HHAT in tumorigenesis. The gene encoding HHAT maps to human chromosome 1 and is expressed as four alternatively spliced isoforms. Chromosome 1 is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. Several disorders, including Stickler syndrome, Parkinsons Disease, Gaucher disease, malignant melanoma and Usher syndrome, are caused by defects in genes that localise to chromosome 1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9769R-A750)
Supplier: Bioss
Description: C10orf62 is a 223 amino acid protein encoded by a gene that maps to human chromosome 10q24.1. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman's syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
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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