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4-Amino-1-phenylpyrrolidin-2-one+hydrochloride
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4-Amino-1-phenylpyrrolidin-2-one+hydrochloride
Catalog Number:
(10296-114)
Supplier:
Bioss
Description:
GCSH is a 173 amino acid mitochondrial protein that contains one lipoyl-binding domain and belongs to the gcvH family. Defects in the gene encoding GCSH are the cause of glycine encephalopathy (GCE), an autosomal recessive disease that is also referred to as non-ketotic hyperglycinemia (NKH). Characterized by severe neurological symptoms, patients with GCE have a large amount of glycine accumulated in their body fluids. The gene encoding GCSH maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome.
Catalog Number:
(10296-120)
Supplier:
Bioss
Description:
GCSH is a 173 amino acid mitochondrial protein that contains one lipoyl-binding domain and belongs to the gcvH family. Defects in the gene encoding GCSH are the cause of glycine encephalopathy (GCE), an autosomal recessive disease that is also referred to as non-ketotic hyperglycinemia (NKH). Characterized by severe neurological symptoms, patients with GCE have a large amount of glycine accumulated in their body fluids. The gene encoding GCSH maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome.
Catalog Number:
(10278-860)
Supplier:
Bioss
Description:
TRB-1 is a 372 amino acid protein that contains one protein kinase domain and belongs to the Ser/Thr protein kinase superfamily. Expressed ubiquitously with highest expression in bone marrow, thyroid gland, skeletal muscle and pancreas, TRB-1 interacts with MAPK kinases and is thought to regulate the activation of MAP kinses, possibly controlling MAP kinase cascades. The gene encoding TRB-1 maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies.
Catalog Number:
(10270-140)
Supplier:
Bioss
Description:
P2Y purinoceptor 11 (P2Y11) is a 374 amino acid protein belonging to the G-protein coupled receptor one family. P2Y11 is a multi-pass cell membrane protein that acts as a receptor for both ATP and ATD coupled to G proteins. Due to these interactions, P2Y11 is involved in phosphatidylinositol-calcium and adenylyl cyclase pathways. Induced by DMSO and retinoic acid, P2Y11 is highly expressed in spleen tissue. A putative trans-splicing event involving the gene that encodes P2Y11 and an upstream gene encoding PPAN has been found to result in a fusion protein, designated PPAN-P2RY11.
Catalog Number:
(10259-974)
Supplier:
Bioss
Description:
CLN8, a 286 amino acid transmembrane protein, localizes mainly to the endoplasmic reticulum, but also partially to the ER-Golgi intermediate compartment (ERGIC). Mutations in the CLN8 gene cause neuronal ceroid lipofuscinosis 8 and progressive epilepsy with mental retardation (EPMR). Both disorders are forms of neuronal ceroid-lipofuscinose (NCL), a group of progressive neurodegenerative diseases found in children, characterized by failure of psychomotor development, impaired vision, seizures and premature death. The CLN8 protein is one of eight proteins in the CLN family, including CLN1-CLN7, which are associated with NCL.
Catalog Number:
(10266-110)
Supplier:
Bioss
Description:
CLN8, a 286 amino acid transmembrane protein, localizes mainly to the endoplasmic reticulum, but also partially to the ER-Golgi intermediate compartment (ERGIC). Mutations in the CLN8 gene cause neuronal ceroid lipofuscinosis 8 and progressive epilepsy with mental retardation (EPMR). Both disorders are forms of neuronal ceroid-lipofuscinose (NCL), a group of progressive neurodegenerative diseases found in children, characterized by failure of psychomotor development, impaired vision, seizures and premature death. The CLN8 protein is one of eight proteins in the CLN family, including CLN1-CLN7, which are associated with NCL.
Catalog Number:
(10750-276)
Supplier:
Prosci
Description:
POFUT1 Antibody: POFUT1, an endoplasmic reticulum-residing member of the glycosyltransferase O-Fuc family, adds O-fucose through an O-glycosidic linkage to conserved serine or threonines in epidermal growth factor-like repeats of several cell surface and secreted proteins. Unlike its homolog POFUT2, POFUT1 can also catalyze the transfer of fucose to thrombospondin type 1 repeats. Many of the substrates of POFUT1 are involved in ligand-induced receptor signaling. One such protein is Notch; mouse ES cells lacking POFUT have normal levels of Notch receptors at the cell surface, but these receptors do not bind Notch ligands or exhibit Notch signaling.
Catalog Number:
(10070-324)
Supplier:
Prosci
Description:
p53 is a nuclear protein which plays an essential role in the regulation of cell cycle specifically in the transition from G0 to G1. It is found in very low levels in normal cells however in a variety of transformed cell lines in high amounts and believed to contribute to transformation and malignancy. The open reading frame of p53 is 393 amino acids long, with the central region (consisting of amino acids from about 100 to 300) containing the DNA-binding domain. This proteolysis-resistant core is flanked by a C-terminal end mediating oligomerization and an N-terminal end containing a strong transcription activation signal. p53 binds as a tetramer to a PBS (p53-Binding Site) and activates the expression of downstream genes that inhibit growth and/or invasion. p53 binds as a tetramer to a p53-binding site (PBS) and to activate the expression of adjacent genes that inhibit growth and/or invasion. Deletion of one or both p53 alleles reduces the expression of tetramers, resulting in decreased expression of the growth inhibitory genes
Catalog Number:
(10254-468)
Supplier:
Bioss
Description:
The synaptogyrin family of proteins are integral membrane proteins containing four transmembrane regions. Synaptogyrins are tyrosine-phosphorylated proteins with two neuronal isoforms (Synaptogyrin-1 and -3) and one ubiquitous isoform (Synaptogyrin-2). Synaptophysin and synaptogyrin represent the major constituents of synaptic vesicles. Synaptogyrin-1 is associated with presynaptic vesicles in neuronal cells. Synaptogyrin-2, also known as cellugyrin, has a tyrosine phosphorylated C-terminal cytoplasmic tail and is involved in the regulation of membrane traffic in non-neuronal cells. Synaptogyrin-3 is expressed mainly in brain and placenta. Synaptogyrin-4 is a 234 amino acid protein encoded by the SYNGR4 gene.
Catalog Number:
(10748-812)
Supplier:
Prosci
Description:
CCDC134 Antibody: The coiled-coil domain is a common protein motif that is often involved in protein oligomerization and is found in proteins such as transcription factors and intermediate filaments. One such protein is CCDC134, a recently identified secretory protein that has been found to inhibit the transcriptional activity of the Elk1 protein. Overexpression CCDC134 also inhibited the phosphorylation of Erk and JNK/SAPK but not p38 MAPK, while specific siRNA against CCDC134 activated Elk1 transcriptional activity and the phosphorylation of Erk and JNK/SAPK, suggesting a potential inhibiting role of CCDC134 in MAPK-mediated Elk1 transcription. CCDC134 is widely expressing in normal adult tissues, tumors, and cell lines.
Catalog Number:
(10301-084)
Supplier:
Bioss
Description:
Transmembrane proteins contain transmembrane domains that are usually characterized by alpha-helical structures. Transmembrane proteins exist as thermodynamically stable hetero- and homodimers that interact with the lipid bilayer and are involved in both material exchange and communication between the cell and the environment. PL6 is a 351 amino acid multi-pass membrane protein that is highly expressed in kidney and skeletal muscle with lower levels of expression detected in liver, placenta, prancreas, lung, heart and brain. PL6 contains one phosphoserine residue and several transmembrane domains, suggesting that it may participate in protein exchange and signaling events between cells.
Catalog Number:
(10751-534)
Supplier:
Prosci
Description:
CASKIN2 Antibody: Calcium/calmodulin-dependent serine protein kinase (CASK) is a conserved multi-domain scaffolding protein involved in brain development, synapse formation, and establishment of cell polarity. CASKINs (CASK interacting protein ) interact with CASK and is thought to play a role in CASK function, specifically by coupling CASK to distinct downstream effectors. CASKIN2 is a multidomain protein containing six N-terminal ankyrin repeats, one SH3 domain, and two sterile alpha motif domains followed by a long proline-rich sequence and a short conserved C-terminal domain. It is expressed ubiquitously with highest levels present in fetal and adult liver tissue.
Catalog Number:
(76108-962)
Supplier:
Bioss
Description:
FERM domains are roughly 150 amino acids in length and are found in a number of cytoskeletal-associated proteins such as Ezrin, Radixin, Moesin and 4.1 (erythrocyte membrane protein band 4.1), where they provide a link between cytoskeletal signals and membrane dynamics. FRMD8 (FERM domain-containing protein 8), also known as FKSG44, is a 464 amino acid protein containing one FERM domain. Existing as two alternatively spliced isoforms, the gene encoding FRMD8 maps to human chromosome 11q13.1. 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. 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.
Catalog Number:
(76119-374)
Supplier:
Bioss
Description:
The MARVEL domain is a 130 amino acid motif that contains four transmembrane helices, both of which have cytoplasmic N- and C-terminal regions. MARVEL domain-containing proteins are thought to participate in tight junction regulation, the biogenesis of vesicular transport carriers and in cholesterol-rich membrane apposition events. Pantophysin, also known as SYPL1 (synaptophysin-like protein 1) or H-SP1, is a 259 amino acid multi-pass membrane protein that localizes to melanosomes and vesicles, as well as to the cytoplasm, and contains one MARVEL domain. Expressed as multiple alternatively spliced isoforms, pantophysin is present in tissues throughout the body where it may play a role in vesicle trafficking and protein transport. The gene encoding pantophysin maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.
Catalog Number:
(10292-638)
Supplier:
Bioss
Description:
The exosome is a multi-subunit complex composed of several highly conserved proteins, some of which are 3’ to 5’ exoribonucleases. The complex is involved in a variety of cellular processes and is responsible for degrading unstable mRNAs that contain AU-rich (ARE) elements in their untranslated 3’ region. EXOSC10, also known as PMSCL, PMSCL2, p2, p3, p4, RRP6, Rrp6p, PM-Scl, or PM/Scl-100, is an 885 amino acid protein that contains one HRDC domain and one 3’-5’ enonuclease domain. Localized to both the cytoplasm and the nucleus, EXOSC10 is part of the post-splicing exosome complex and is involved in mRNA surveillance, mRNA nuclear export and nonsense-mediated decay of mRNAs containing premature stop codons. against EXOSC10 have been found in patients with scleroderma and/or polymyositis (chronic diseases of the skin and muscle, respectively), suggesting that EXOSC10 may be involved in the pathogenesis of these diseases. Two isoforms of EXOSC10 exist due to alternative splicing events.
Catalog Number:
(10482-356)
Supplier:
Bioss
Description:
FCHSD1 is a 690 amino acid protein that contains one FCH domain and two SH3 domains. FCHSD1 exists as three isoforms as a result of alternative splicing events. The gene encoding FCHSD1 maps to chromosome 5, which is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
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