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Catalog Number: (BOSSBS-8333R-A555)
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.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13684R-A555)
Supplier: Bioss
Description: The Src homology 3 (SH3) domain is a highly conserved 60 amino acid protein domain that is organized into a beta-barrel fold consisting of five or six beta strands arranged as two tightly packed anti-parallel beta sheets. This domain is found in proteins that mediate assembly of specific protein complexes and interact with other proteins, specifically recognizing proline-rich regions. BAIAP2L2 (Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2) is a 529 amino acid protein containing an SH3 domain, suggesting that it may function as an adaptor protein. BAIAP2L2 also contains an IMD (IRSp53/MIM) domain, which enables the protein to bind to and bundle Actin filaments, as well as bind to membranes and interact with Rac GTPase. There are two named isoforms of BAIAP2L2 which are produced as a result of alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-4192R-A555)
Supplier: Bioss
Description: SLC25A20 is one of several closely related mitochondrial membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. It mediates the transport of acylcarnitines into the mitochondrial matrix for their oxidation by the mitochondrial fatty acid oxidation pathway. Mutations in this gene are associated with carnitine acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-5933R-A555)
Supplier: Bioss
Description: KCNK9 or TASK-3 (TWIK-related Acid sensitive K+ channel) is a member of the potassium channel family of proteins that contain two-pore domain and four transmembrane domains. These channels are characterized as leak K+ channels that are sensitive to changes in the extracellular pH. The physiological functions of TASK channels are largely unknown; it has been proposed that they may be involved in the regulation of breathing, aldosterone secretion and anesthetic-mediated neuronal activity. They were found to act in neurons' membrane potential and in resting K+ currents.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12493R-A555)
Supplier: Bioss
Description: APOBEC2 is a 224 amino acid protein that belongs to the cytidine and deoxycytidylate deaminase family. Expressed exclusively in heart and skeletal muscle, APOBEC2 is thought to be a probable C (cytidine) to U (uridine) editing enzyme. However, unlike other members of the family, such as APOBEC1, which mediates the editing of apolipoprotein (apo) B mRNA, APOBEC2 does not display any detectable apoB mRNA editing activity. Also, APOBEC2 has been shown to have low, but definite, intrinsic cytidine deaminase activity.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9603R-A555)
Supplier: Bioss
Description: TEF-3, is a 427 amino acid member of the transcriptional enhancer factor (TEF) family of proteins that are characterized by the presence of a TEA DNA-binding domain. Localized to the nucleus and expressed primarily in skeletal muscle, TEF-3 functions as a transcriptional regulator by binding specifically and non-cooperatively to the M-CAT motif found in the promotors of muscle-specific genes, thereby directing their subsequent expression. TEF-3 contains one TEA DNA-binding domain and is expressed as multiple isoforms due to alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-8395R-A555)
Supplier: Bioss
Description: FBXO29, also designated F-box/WD repeat-containing protein 8 (FBXW8), is a 598 amino acid protein that contains one 40 amino acid F-box region, making it a member of the F-box family. FBXO29 also contains five WD repeats. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein) type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. F-box proteins are members of a large family that regulates cell cycle, immune response, signaling cascades and developmental programs by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, IkB-å and ∫-catenin, for degradation by the proteasome after ubiquitination. Functioning as a component of the SCF complex, FBXO29 is thought to recognize and bind to select phosphorylated proteins, thereby promoting their ubiquitination and subsequent degradation. FBXO29 exists as two isoforms as a result of alternative splicing events.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12361R-A555)
Supplier: 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. FLRT1 (fibronectin leucine rich transmembrane protein 1) is a 646 amino acid single-pass type I membrane protein that contains one fibronectin type-III domain and ten LRR repeats. Expressed in kidney and brain, FLRT1 is thought to play a role in cell adhesion and receptor signaling. FLRT1 shares similarity with FLRT2 and FLRT3 and is subject to post-translational N-glycosylation. The gene encoding FLRT1 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11386R-A555)
Supplier: Bioss
Description: AADACL3 is a 350 amino acid protein that belongs to the 'GDXG' lipolytic enzyme family and participates in hydrolase activity. Existing as two alternatively spliced isoforms, AADACL3 is encoded by a gene that maps to human chromosome 1p36.21. Chromosome 1, the largest human chromosome, makes up 8% of the human genome and contains about 260 million base pairs, which encode 3,000 genes. Chromosome 1 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. 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-12351R-A555)
Supplier: Bioss
Description: STRA6 is a 667 amino acid, multi-pass cell membrane protein. Stra6 functions as a cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4). Ultimately increasing cellular retinol uptake from the retinol-RBP complex, Stra6 removes retinol from RBP/RPB4 and transports it across the plasma membrane, where it is metabolized. Stra6 is broadly expressed, with 4 named isoforms that exist as a result of alternative splicing events. Mutations in the gene encoding Stra6 cause Matthew-Wood Syndrome, also known as Spear Syndrome. This syndrome is characterized by anophtalmia, mild facial dysmorphism and malformations of the heart, lung and diaphragm. The Stra6 gene maps to chromosome 15q24.1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12948R-A555)
Supplier: Bioss
Description: CRTAC1 is a 661 amino acid secreted protein. CRTAC1 is O-glycosylated and contains one EGF-like domain and four FG-GAP repeats. Up-regulated in mesenchymal stem cells undergoing chondrogenic differentiation and also by growth factor BMP-4, CRTAC1 is found in the interterritorial matrix of articular deep zone cartilage. CRTAC1 is expressed as three isoforms produced by alternative splicing events. All isoforms are expressed in bone, cartilage and lung, while isoforms 1 and 2 are expressed in the brain. The gene that encodes CRTAC1 maps to human chromosome 10, which contains over 800 genes and 135 million nucleotides, making up nearly 4.5% of the human genome.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-8242R-A555)
Supplier: Bioss
Description: CTDSPL2 (CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2), also known as HSPC058 or HSPC129, is a 466 amino acid protein that contains one FCP1 homology domain and belongs to the CTDSPL2 family. Existing as two alternatively spliced isoforms, CTDSPL2 is thought to function as a phosphatase and is encoded by a gene that maps to human chromosome 15q15.3. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and comprises about 3% of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12356R-A555)
Supplier: Bioss
Description: ALX1 is a 326 amino acid protein specific to cervix and cartilage tissues. As well as having a homeobox domain, ALX1 also contains an OAR domain, which has been suggested to be important for DNA binding or protein-protein interactions and transactivation. First characterized from a rat chondrosarcoma tumor cell line, ALX1 is a homeobox transcription factor that regulates downstream target genes and has specifically shown to act as a transcriptional repressor for rat prolactin in vivo. Homozygous ALX1 deficient mice are born with acrania and meroanencephaly, suggesting ALX1 function in the development of the neural tube. It has also been suggested that ALX1 cooperates with ALX4 in limb development and craniofacial bone formation.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-7157R-A555)
Supplier: Bioss
Description: Mitoferrin 2, also known as MRS3/4 (mitochondrial RNA-splicing protein 3/4 homolog), mitochondrial iron transporter 2, NPD016, MRS4L or SLC25A28 (solute carrier family 25 member 28), is a 364 amino acid multi-pass membrane protein of the mitochondrial inner membrane that mediates iron uptake. Mitoferrin 2 is thought to play a role in heme synthesis of hemoproteins and iron-sulfur cluster assembly. Ubiquitously expressed, Mitoferrin 2 is found at high levels in skeletal muscle, heart, placenta, kidney, lung, liver, brain and pancreas. Mitoferrin 2 is a member of the mitochondrial carrier family and undergoes alternative splicing events to produce four isoforms. Mitoferrin 2 contains three solcar repeats and is encoded by a gene that maps to human chromosome 10q24.2.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12534R-A555)
Supplier: Bioss
Description: Ataxin-1, also designated spinocerebellar ataxia type 1 protein (Sca-1), is differentially expressed and localizes to both the cytoplasm and the nucleus. Mutations in Ataxin-1 are associated with the onset of the autosomal dominant neurodegenerative disorder spinocerebellar ataxia type 1 (SCA-1), which is characterized by progressive neuronal loss in the cerebellum, muscle wasting and ataxia. In Purkinje cells, where SCA-1 is predominantly observed, Ataxin-1 has been shown to directly associate with the Purkinje-enriched leucine-rich acidic nuclear protein (LANP) and the nuclear matrix-associated protein promyelocytic leukemia protein PML. In SCA-1, Ataxin-1 is mutated to encode a polyglutamine protein that forms nuclear aggregates, which interact significantly more strongly with LANP and contribute to the pathogenesis of SCA-1.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12411R-A555)
Supplier: Bioss
Description: Prickle1 is an 831 amino acid protein that contains one PET domain and three LIM zinc-binding domains and localizes to the cytoplasm, as well as to the nuclear membrane. Expressed at higher levels in placenta and at lower levels in liver, brain, kidney, lung and pancreas, Prickle1 is thought to function as a nuclear receptor that interacts with NRSF, a silencer protein that binds the DNA sequence element NRSE (neuron-restrictive silencer element). Defects in the gene encoding Prickle1 are associated with autosomal recessive progressive myoclonic epilepsy-1B, which is characterized by quick jerks of the arms, shoulders or legs. The gene encoding Prickle1 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome.
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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