Antibody catalog

The genetic disorder known as Fanconi anemia (FANC) is a heterogeneous, autosomal-recessive cancer susceptibility condition characterized by a wide array of symptoms. These include congenital malformations, progressive bone marrow failure, DNA-damage hypersensitivity, and genome instability. The protein FANCD2 is a subunit of the protein complex involved in cellular resistance to DNA cross-linking and DNA synthesis arrest triggered by ionizing radiation (IR).

Bone morphogenetic proteins such as GDF15 belong to the transforming growth factor-beta (TGFB) family that directs tissue differentiation and maintenance. GDF15 appears to be involved in a variety of physiological processes such as pregnancy, injury and inflammation, and apoptosis. Evidence suggests GDF15 is a marker for metastasis.

PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a member of the proteinase K subfamily of the secretory subtilase family. It is first produced as a soluble zymogen that then undergoes an autocatalytic processing within the endoplasmic reticulum (ER). PCSK9 functions in cholesterol homeostasis as well as cortical neuron differentiation. Mutations in this gene are associated with a third form of autosomal dominant familial hypercholesterolemia (HCHOLA3).

PINK1 (PTEN induced putative kinase 1) is a mitochondrial serine/threonine kinase which maintains mitochondrial function/integrity, provides protection against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins, and is involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).

The NUT gene is found on chromosome 15q14 and encodes for the NUT protein which is a key component of the RNA polymerase II Mediator complex. This multi-subunit assembly is required for all RNA pol II-dependent transcriptional activation, coordinating both nuclear and mitochondrial gene transcription. The complex also includes pol II, and transcription factors TFIIA-F. It serves as a central scaffold within the pre-initiation complex (PIC) responsible for converting biological stimuli (in the form of transcription factors) into gene expression responses.

Neurofibromatosis (NF) is a genetic disorder caused by mutations in the NF1, NF2 or SMARCB1 genes which lead to tumor growth on nerves throughout the body. Although the tumors are usually benign, they still require chemotherapy to shrink and may become cancerous. Surgery is often attempted as treatment, however tumor placement on sensitive areas such as spinal cord and optic nerve make this option more difficult.

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The NALP family consists of cytoplasmic proteins within the larger CATERPILLER protein family. There exist in short forms (such as NALP4) and long forms (NALP1). NALP proteins include the apoptosis regulator apoptotic protease activating factor 1 (APAF1) and mammalian NOD-LRR proteins, and are thought to play a role in the inflammation and reproduction processes.

The innate immune system is responsible for reacting to viral infections through recognition of various viral components. Like toll-like receptor 3 (TLR3), MDA5 recognizes double-stranded (ds) RNA which is a molecular pattern indicative of viral infection. MDA5 and its relative RIG-1 recognize different types of dsRNA, with MDA5 recognizing poly (I:C). MDA5 is a member of the DEAD/DEAH-box RNA helicase family, which all contain the conserved DEAD motif of Asp-Glu-Ala-Asp.

Mannose 6 phosphate (M6P) is a sequence tag that plays a pivotal role in transporting proteins from the Golgi complex and cell surface to the lysosome. The M6P sequence is tagged to the N-linked oligosaccharides of lysosomal hydrolases as they traverse the cis-Golgi apparatus. Upon M6P-tagging, these proteins are targeted to the late endosome via vesicular transport. Low pH conditions there mediate the dissociation of a M6P Receptor from its ligand, allowing recycling of the M6P sequences.

Nitric oxide (NO) is an inorganic, gaseous, and reactive free radical that acts as a biologic mediator in processes such as neurotransmission, vasorelaxation, and cytotoxicity. In addition, it has antimicrobial and anti-tumoral activities. NO production is mediated by members of the nitric oxide synthase (NOS) family. The NOS enzyme catalyzes the oxidization of L-arginine into L-citrulline and NO.  Several subtypes have been identified: two constitutive isoforms (type I brain/neuronal NOS, and type III endothelial) and one inducible isoform (iNOS, or type II).