4-Amino-1-phenylpyrrolidin-2-one+hydrochloride
Catalog Number:
(10263-662)
Supplier:
Bioss
Description:
Fe65L2 is a 486 amino acid protein that contains one WW domain and two PID domains. Binding to the intracellular domain of the ∫-Amyloid precursor protein, Fe65L2 is thought to modulate the internalization and, therefore, the accessibility and function of ∫-Amyloid. Via its ability to control the intracellular accumulation of ∫-Amyloid, Fe65L2 is thought to play a role in the pathogenesis of Alzheimer's disease. Fe65L2 exists as four alternatively spliced isoforms designated isoform I, isoform II, isoform III and isoform IV. Fe65L2 interacts with Amyloid-like protein and is encoded by a gene located on human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Catalog Number:
(10268-072)
Supplier:
Bioss
Description:
Members of the myogenic determination family are basic helix-loop-helix (bHLH) proteins that can be separated into two classes, both of which work together to activate DNA transcription. Class A proteins include the ubiquitously expressed E-box binding factors, namely E2A, ITF-2 and HEB, while class B proteins, such as MyoD, myogenin and Neuro D (BETA2), are transiently expressed and exhibit a much more limited tissue distribution. Working in opposition to these positively acting factors are a specialized group of basic helix-loop-helix (bHLH) transcription factors that function as dominant negative regulators and are involved in cell lineage determination and differentiation. Neuro D2 (neurogenic differentiation 2), also known as NDRF, NEUROD2 or bHLHa1, is a 382 amino acid nuclear protein that contains one bHLH domain and functions to induce neurogenic differentiation, playing an important role in the maintenance and determination of cell fate.
Catalog Number:
(10303-278)
Supplier:
Bioss
Description:
DZIP1 (DAZ interacting protein 1) is also known as DZIP or DZIP2 and is a 867 amino acid protein which is expressed as three isoforms, designated DZIPb, DZIPt1 and DZIPt2. DZIP1 is localized to testis, oocytes, ovary and fetal brain, as well as in embryonic stem cells and germ cells. In testis, DZIP1 is localized to the nucleus and also shows some cytoplasmic distribution in spermatogonia. DZIP1 belongs to the C2H2-type zinc-finger protein family, and, characteristc of the C2H2-type zinc-finger protein family, DZIP1 contains one C2H2-type zinc-finger region through which it is thought to interact with DAZ, an interaction that promotes spermiogenesis. DZIP1 expression is not found in those afflicted with Sertoli cell-only syndrome (characterized by the absence of germ cells in the testis), suggesting that the lack of DZIP1 may be involved in the pathogenesis of Sertoli cell-only syndrome-induced male sterility.
Catalog Number:
(10283-064)
Supplier:
Bioss
Description:
PTCHD3 is a 767 amino acid multi-pass membrane protein that localizes to the midpiece of the sperm tail, where it is implicated in sperm function and development. A member of the patched family, PTCHD3 contains one SSD (sterol-sensing) domain and is encoded by a gene that maps to human chromosome 10p12.1. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 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.
Catalog Number:
(10276-682)
Supplier:
Bioss
Description:
Zinc finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. Zinc finger protein 750 is a 723 amino acid member of the Krüppel C2H2-type zinc finger protein family. Localized to the nucleus, ZNF750 contains one conserved C2H2 zinc finger domain and is expressed in the skin, lungs, prostate, placenta and thymus. ZNF750 is also expressed in primary human keratinocytes but not in fibroblasts. Mutations in the gene encoding ZNF750 cause Seborrhea-like dermatitis with psoriasiform, a condition characterized by a chronic and diffuse rash on the face and hyperkeratosis of skin over the elbows, soles, knees and palms.
Catalog Number:
(10264-584)
Supplier:
Bioss
Description:
G protein-coupled receptors (GPRs or GPCRs), also known as seven transmembrane receptors, heptahelical receptors, or 7TM receptors, are members of the largest protein family and play a role in many different stimulus-response pathways. G-protein coupled receptors mediate extracellular signals into intracellular signals (G-protein activation). They respond to a great variety of signaling molecules, including hormones, neurotransmitters and other proteins and peptides. GPR proteins are integral seven-pass membrane proteins with some conserved amino acid regions. G-protein coupled receptor 56 (GPR56), also designated TM7XN1 protein, contains one GPS domain. GPR56 plays an important role in cell-cell interactions and is widely expressed, with highest levels detected in brain, heart and thyroid gland. Defects in the gene encoding for GPR56 can cause bilateral frontoparietal polymicrogyria (BFPP) which is characterized by disorganized cortical lamination.
Catalog Number:
(10251-674)
Supplier:
Bioss
Description:
SH3TC2 (SH3 domain and tetratricopeptide repeats 2) is a 1,288 amino acid protein that contains one SH3 domain and eight TPR repeats. The SH3TC2 gene encodes a protein expressed in Schwann cells of peripheral nerves, and localized to the plasma membrane and to the perinuclear endocytic recycling compartment, suggesting a possible function in myelination and/or in regions of axoglial interactions. The SH3TC2 protein is expressed in adult heart, testis, spinal cord, and brain as well as in fetal brain and liver. Mild mononeuropathy of the median nerve (MNMN) is caused by heterozygous mutation in the SH3TC2 gene. Also, Charcot-Marie-Tooth disease type 4C (CMT4C) is a more severe neuropathy caused by homozygous or compound heterozygous mutation in the SH3TC2 gene. Existing as four alternatively spliced isoforms and containing 18 exons, the SH3TC2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 5q32.
Catalog Number:
(10265-494)
Supplier:
Bioss
Description:
Acetyltransferases and deacetylases are protein groups most often associated with oncogenesis and cell cycle regulation. NAT-8B (N-acetyltransferase 8B), also known as CML2 (camello-like protein 2), is a 227 amino acid single-pass membrane protein that is implicated in gastrulation regulation. A member of the camello family, NAT-8B contains one N-acetyltransferase domain and is encoded by a gene that maps to human chromosome 2p13.2. The NAT-8B gene is susceptible to a nonsense mutation at Serine 16, which leads to a stop codon and subsequently, a non-functional protein that is truncated in length. Similarly, a nonsense mutation at Glutamine 168 is thought to lead to a non-functional protein, as it causes the N-acetyltransferase to become disrupted. Human chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2 including Harlequin icthyosis, sitosterolemia and Alstré°‰ syndrome.
Catalog Number:
(10301-628)
Supplier:
Bioss
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. ZNF206 (zinc finger protein 206), also known as ZSCAN10 (zinc finger and SCAN domain containing 10), is a 725 amino acid protein that contains one SCAN box domain and 14 C2H2-type zinc fingers. Localized to the nucleus, ZNF206 is thought to play a role in transcriptional regulation events. The gene encoding ZNF206 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.
Catalog Number:
(10301-626)
Supplier:
Bioss
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. ZNF206 (zinc finger protein 206), also known as ZSCAN10 (zinc finger and SCAN domain containing 10), is a 725 amino acid protein that contains one SCAN box domain and 14 C2H2-type zinc fingers. Localized to the nucleus, ZNF206 is thought to play a role in transcriptional regulation events. The gene encoding ZNF206 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.
Catalog Number:
(10279-438)
Supplier:
Bioss
Description:
The phosphorylation and dephosphorylation of proteins on serine and threonine residues is an essential means of regulating a broad range of cellular functions in eukaryotes, including cell division, homeostasis and apoptosis. A group of proteins that are intimately involved in this process are the serine/threonine (Ser/Thr) protein kinases. STK33 (serine/threonine kinase 33) is a 514 amino acid protein that belongs to the CaMK (calcium/calmodulin dependent kinase) subfamily of structurally related serine/threonine kinases. Widely expressed at low levels with predominant expression in testis, lung, retina and fetal organs such as brain, heart and spinal cord, STK33 contains one protein kinase domain and functions as a Ser/Thr protein kinase with a possible role in spermatogenesis. The gene encoding STK33 lies within a region on chromosome 11 that has been associated with a variety of defects, including Long QT syndrome, T-cell leukemia, Beckwith-Wiedemann syndrome, Usher syndrome 1C and various other malignancies.
Catalog Number:
(75930-986)
Supplier:
Rockland Immunochemical
Description:
Glycosylphosphatidylinositol (GPI) lipid anchoring is an important post-translational modification of proteins that takes place in the endoplasmic reticulum. The synthesis of GPI is initiated by GPI-N-acetylglucosaminyltransferase (GPI-GnT), a complex of proteins including PIG-A, PIG-H, PIG-C, GPI1, and DPM2. PIG-Y, the mammalian homolog to yeast Eri1p, is also thought to be involved in the biosynthesis of GPI. The PIG-Y gene encodes two proteins, one of which arises from leaky scanning of the mRNA.
Catalog Number:
(75930-988)
Supplier:
Rockland Immunochemical
Description:
Glycosylphosphatidylinositol (GPI) lipid anchoring is an important post-translational modification of proteins that takes place in the endoplasmic reticulum. The synthesis of GPI is initiated by GPI-N-acetylglucosaminyltransferase (GPI-GnT), a complex of proteins including PIG-A, PIG-H, PIG-C, GPI1, and DPM2. PIG-Y, the mammalian homolog to yeast Eri1p, is also thought to be involved in the biosynthesis of GPI. The PIG-Y gene encodes two proteins, one of which arises from leaky scanning of the mRNA.
Catalog Number:
(10276-528)
Supplier:
Bioss
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Kruppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF131 (Zinc finger protein 131) is a 623 amino acid nuclear protein that contains one BTB (POZ) domain and six C2H2-type zinc fingers. With predominant expression found in brain, it is likely that ZNF131 plays a role as a transcription regulator during development and organogenesis of the adult central nervous system. ZNF131 also represses ER Alpha (Estrogen receptor alpha)-mediated transactivation by interrupting ER?binding to the estrogen-response element. There are two isoforms of ZNF131 that are produced as a result of alternative splicing events.
Catalog Number:
(10269-280)
Supplier:
Bioss
Description:
Members of the EF-CBP (N-terminal EF-hand calcium binding protein)/NECAB (neuronal calcium-binding protein) family participate in neuronal calcium signaling. EF-CBP1 (N-terminal EF-hand calcium binding protein 1), also known as STIP-1 or neuronal calcium-binding protein 1 (NECAB1), is a 351 amino acid cytoplasmic protein that contains one antibiotic biosynthesis monooxygenase (ABM) domain and two EF-hand domains. Expressed in brain, EF-CBP1 interacts with copine 6 and Syntaxin, and exists as two alternatively spliced isoforms. The gene encoding EF-CBP1 maps to human chromosome 8, which consists of nearly 146 million base pairs, encodes over 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8.
Catalog Number:
(10752-022)
Supplier:
Prosci
Description:
B2M Antibody: Beta2-microglobulin (B2M) is a principal component of the Major Histocompatibility Complex (MHC) class I molecule, a ternary membrane protein complex that displays fragments derived from proteolyzed cytosolic proteins on the surface of cells for recognition by the surveillance immune system. B2M is involved in the presentation of peptide antigens to the immune system and plays a critically important role in immune system function. It is expressed on nearly all nucleated cells and contains one Ig-like C1-type (immunoglobulin-like) domain. Mutations in the Beta 2-microglobulin gene can enhance the progression of malignant melanoma and osteoarthropathy.
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