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Isolation+and+Cleanup+HyClone+products+(Cytiva)
Catalog Number:
(10092-200)
Supplier:
Proteintech
Description:
PHKB gene encodes phosphorylase kinase subunit beta involved in glycan biosynthesis and glycogen metabolism. PHKB activity is regulated by phosphorylation of various serine residues, and catalyzes the phosphorylation of serine in certain substrates, including troponin I. Phosphorylase kinase (PhK) complex, composed of alpha, beta, gamma, and delta subunits, stimulates energy production from glycogen in the cascade activation of glycogenolysis. Its large homologous alpha and beta subunits regulate the activity of the catalytic gamma subunit. Defects in PHKB are the cause of glycogen storage disease type 9B (GSD9B) also known as phosphorylase kinase deficiency of liver and muscle (PKD), characterized by hepathomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement.
Catalog Number:
(76078-520)
Supplier:
Bioss
Description:
Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Also plays a role in apoptosis, via its cleavage by caspase-3/CASP3 or caspase-7/CASP7 during early steps of apoptosis: the C-terminal 64 kDa cleavage product may act as a nuclear signal to initiate cytoplasmic events involved in the apoptotic pathway.
Catalog Number:
(10490-424)
Supplier:
Bioss
Description:
C9orf150 is a 231 amino acid protein encoded by a gene that maps to human chromosome 9p23. 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 characterized 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.
Catalog Number:
(10491-352)
Supplier:
Bioss
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 CXorf21 gene product has been provisionally designated CXorf21 pending further characterization.
Catalog Number:
(10490-444)
Supplier:
Bioss
Description:
C9orf152 is a 239 amino acid protein encoded by a gene that maps to human chromosome 9q31.3. 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 characterized 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.
Catalog Number:
(10483-320)
Supplier:
Bioss
Description:
F box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F box proteins have been shown to be critical for the ubiquitin mediated degradation of cellular regulatory proteins. In fact, F box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F box proteins. A large family of mammalian F box proteins has recently been identified and classified into three groups based on the presence of either the WD 40 repeats, the leucine rich repeats, or the presence or absence of other protein protein interacting domains. The FBXW2 gene product, the second identified member of the F box gene family, contains multiple WD 40 repeats.
Catalog Number:
(10458-136)
Supplier:
Bioss
Description:
Differentiation of myogenic cells is regulated by multiple positively and negatively acting factors. One well characterized family of helix-loop-helix (HLH) proteins known to play an important role in the regulation of muscle cell development include Myo D, myogenin, Myf-5 and Myf-6 (also designated MRF-4 or herculin). Of interest, most muscle cells express either Myo D or Myf-5 in the committed state, but when induced to differentiate, all turn on expression of myogenin. Myo D transcription factors form heterodimers with products of a more widely expressed family of bHLH genes, the E family, which consists of at least three distinct genes: E2A, IF2 and HEB. Myo D-E heterodimers bind avidly to consensus (CANNTG) E box target sites that are functionally important elements in the upstream regulatory sequences of many muscle-specific terminal differentiation genes.
Catalog Number:
(10482-186)
Supplier:
Bioss
Description:
RDH13, also known as all-trans and 9-cis retinol dehydrogenase 13 or SDR7C3, is a 331 amino acid mitochondrial protein belonging to the short-chain dehydrogenases/reductases (SDR) family. Widely expressed, mostly in eye, pancreas, placenta and lung, RDH13 localizes on the outer side of the inner mitochondrial membrane. Related to microsomal retinoid oxidoreductase RDH11, RDH13 is considered to be a major enzyme among the RDH family of proteins. Catalytically active, RDH13 recognizes retinoids as substrates and may function in retinoic acid production. RDH13 may function to protect the mitochondria against oxidative stress. Leber congenital amaurosis (LCA) type 3, an inherited autosomal recessive retinal disease, has been associated with defects of RDH13. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
Catalog Number:
(10671-736)
Supplier:
Bioss
Description:
Members of the class-III pyridoxal-phosphate-dependent aminotransferase family, such as AGXT2, catalyze the conversion of glyoxylate to glycine using L-alanine as the amino donor. AGXT2 protects from asymmetric dimethylarginine (ADMA)-induced inhibition in nitric oxide (NO) production. Elevated blood concentrations of ADMA, a methyl derivate of the amino acid arginine and an endogenous inhibitor of nitric oxide (NO) synthase, is produced by the physiological degradation of methylated proteins and is found in association with diabetes, hypertension, congestive heart failure and atherosclerosis. AGXT2L2 (alanine-glyoxylate aminotransferase 2-like 2) is a 450 amino acid pyridoxal phosphate that exists as a homotetramer. Belonging to the class-III pyridoxal-phosphate-dependent aminotransferase family, AGXT2L2 localizes to the mitochondria and exists as three alternatively spliced isoforms. Encoded by a gene located on human chromosome 5q35.3, AGXT2L2 may have similar functions as AGXT2.
Catalog Number:
(10671-756)
Supplier:
Bioss
Description:
Members of the class-III pyridoxal-phosphate-dependent aminotransferase family, such as AGXT2, catalyze the conversion of glyoxylate to glycine using L-alanine as the amino donor. AGXT2 protects from asymmetric dimethylarginine (ADMA)-induced inhibition in nitric oxide (NO) production. Elevated blood concentrations of ADMA, a methyl derivate of the amino acid arginine and an endogenous inhibitor of nitric oxide (NO) synthase, is produced by the physiological degradation of methylated proteins and is found in association with diabetes, hypertension, congestive heart failure and atherosclerosis. AGXT2L2 (alanine-glyoxylate aminotransferase 2-like 2) is a 450 amino acid pyridoxal phosphate that exists as a homotetramer. Belonging to the class-III pyridoxal-phosphate-dependent aminotransferase family, AGXT2L2 localizes to the mitochondria and exists as three alternatively spliced isoforms. Encoded by a gene located on human chromosome 5q35.3, AGXT2L2 may have similar functions as AGXT2.
Catalog Number:
(75789-446)
Supplier:
Prosci
Description:
Zinc- alpha-2-Glycoprotein (AZGP1) can be found in blood plasma, seminal plasma, urine, sweat, saliva, liver, and epithelial cells of various human glands. AZGP1 has been proposed in the regulation of body weight, and the melanin production by normal and malignant melanocytes. AZGP1 stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. AZGP1 has been reported to stimulate lipid breakdown and may have an important role in lipid homeostasis. Mature human AZGP1 consists of one MHC class I antigen region and a C2-type Ig-like domain. AZGP1 has two alternate splice forms, one shows a 66 amino acids substitution for the C-terminal 30 amino acids, the other one shows a nine Lys substitution for amino acid 151-298.
Catalog Number:
(10666-376)
Supplier:
Bioss
Description:
Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The FAM135B gene product has been provisionally designated FAM135B pending further characterization.
Catalog Number:
(10488-660)
Supplier:
Bioss
Description:
C9orf117 is a 520 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding C9orf117 maps to human chromosome 9q34.11. 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 characterized 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.
Catalog Number:
(10409-596)
Supplier:
Bioss
Description:
The assembly of very-low-density lipoproteins (VLDLs) in the secretory apparatus of the hepatocyte relies on the mobilization of triacylglycerol (TAG) from the cytosolic pool by lipolysis and re-esterification. However, some of the re-esterified TAG products are returned to the cytosolic pool in the liver, which protects vulnerable body tissues from excess lipotoxic non-esterified fatty acids in the plasma. Some of the lipases involved in this process include arylacetamide deacetylase (AADAC) and its related proteins AADACL1 and AADACL2. AADAC, a single pass type II membrane protein of the endoplasmic reticulum, is expressed in hepatocytes, intestinal mucosal cells, pancreas and adrenal gland. It plays an important role in the metabolic activation of arylamine substrates to ultimate carcinogens. AADACL1 hydrolyzes the metabolic intermediate 2-acetyl monoalkylglycerol, and its inactivation results in disruption of ether lipid metabolism in cancer cells and impaired cell migration and tumor growth.
Catalog Number:
(10495-720)
Supplier:
Bioss
Description:
C14orf106 is required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. It interacts with SP1. There are two isoforms.Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies. The C14orf106 gene product has been provisionally designated C14orf106 pending further characterization.
Catalog Number:
(10494-082)
Supplier:
Bioss
Description:
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. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and β thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. The FAM76B gene product has been provisionally designated FAM76B pending further characterization.
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