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Catalog Number: (10480-272)

Supplier: Bioss

Description: The DCN1-like protein family is comprised of Dcun1D1, Dcun1D2, Dcun1D3, Dcun1D4 and Dcun1D5. The founding member, Dcun1D1, is involved in the malignant transformation of squamous cell lineage.Dcun1D4, (defective in cullin neddylation protein 1-like protein 4 or DCN1-like protein 4), also designated KIAA0276, exists as 2 isoforms as a result of alternative splicing and contains one DCUN1 domain. The gene encoding Dcun1D4 maps to chromosome 4, which houses nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

Catalog Number: (10264-564)

Supplier: Bioss

Description: Glia maturation factor β (GMF-β) belongs to the GMF subfamily of the larger actin-binding protein ADF family. This protein, which is phosphorylated following phorbol ester stimulation, is important for the nervous system. It causes brain cell differentiation, stimulates neural regeneration and inhibits tumor cell proliferation. Overexpression of GMF in astrocytes has been shown to enhance brain-derived neurotrohic factor (BDNF) production. GMF expression is increased by exercise, and the protein is crucial for exercise-induction of BDNF. Through BDNF production, GMF appears to play a role in neuroprotection. In thymoma, T-cell development is maintained by GMF-β being produced by the tumor cells.

Catalog Number: (10264-610)

Supplier: Bioss

Description: IL-1R9 is a member of the interleukin-1/Toll-like receptor family expressed in fetal brain. It is a single pass transmembrane protein with a highly conserved cytoplasmic region that is slightly longer than that of other family members. IL-1R9 is highly homologous to IL-1R8 and the IL-1 accessory protein receptor chains. The genes encoding IL-1R9 and IL-1R8 are both found on the X-chromosome in the region associated with X-linked non-syndromic mental retardation. Unlike other family members, IL-1R9 and IL-1R8 do not activate NF-kB.

Catalog Number: (10264-606)

Supplier: Bioss

Description: IL-1R9 is a member of the interleukin-1/Toll-like receptor family expressed in fetal brain. It is a single pass transmembrane protein with a highly conserved cytoplasmic region that is slightly longer than that of other family members. IL-1R9 is highly homologous to IL-1R8 and the IL-1 accessory protein receptor chains. The genes encoding IL-1R9 and IL-1R8 are both found on the X-chromosome in the region associated with X-linked non-syndromic mental retardation. Unlike other family members, IL-1R9 and IL-1R8 do not activate NF-kB.

Catalog Number: (10264-590)

Supplier: Bioss

Description: IL-1R9 is a member of the interleukin-1/Toll-like receptor family expressed in fetal brain. It is a single pass transmembrane protein with a highly conserved cytoplasmic region that is slightly longer than that of other family members. IL-1R9 is highly homologous to IL-1R8 and the IL-1 accessory protein receptor chains. The genes encoding IL-1R9 and IL-1R8 are both found on the X-chromosome in the region associated with X-linked non-syndromic mental retardation. Unlike other family members, IL-1R9 and IL-1R8 do not activate NF-kB.

Catalog Number: (10264-554)

Supplier: Bioss

Description: GEFT is a 580 amino acid cytoplasmic protein that is highly expressed in excitable tissues such as brain, heart and muscle, and weakly expressed in small intestine, colon, liver, placenta and lung. GEFT may play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. GEFT works as a guanine nucleotide exchange factor for the Rho family of small GTPases and links specifically to G alpha q/11-coupled receptors in Rho A activation. GEFT is an important regulator of processes involved in axon and dendrite formation. Involved in skeletal myogenesis, GEFT seems to be an exchange factor primarily for Rac 1 in neurons. Existing as two alternatively spliced variants, GEFT contains a DH (DBL-homology) domain and a PH domain.

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: (10264-534)

Supplier: Bioss

Description: Growth/differentiation factors (GDFs) are members of the TGF superfamily (1,2). Members of the TGF superfamily are involved in embryonic development and adult tissue homeostasis (1). GDF-1 expression is almost exclusively restricted to the central nervous system and mediates cell differentiation events during embryonic development (3). Neither GDF-3 (Vgr-2) nor GDF-9 contains the conserved cysteine residue which is found in most other TGF superfamily members. GDF-3 is detectable in bone marrow, spleen, thymus and adipose tissue, whereas GDF-9 has only been detected in ovary (4). GDF-5 (also designated CDMP-1) has been shown to induce activation of plasminogen activator, thereby inducing angiogenesis. It is predominantly expressed in long bones during fetal embryonic development and is involved in bone formation. (5). GDF-5 mutations have been identified in mice with the mutation brachypodism (bp), a mutation which affects the length and number of bones in limbs (6). GDF-6 and GDF-7 are closely related to GDF-5 (6). GDF-8 has been shown to be a negative regulator of skeletal muscle mass (1).

Catalog Number: (10408-456)

Supplier: Bioss

Description: MFAP3L is a membrane protein that is highly expressed in testis. It contains 1 Ig-like C2-type (immunoglobulin-like) domain and has three named isoforms produced by alternative splicing. Its function remains unknown.

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: (10254-432)

Supplier: Bioss

Description: Synaptotagmins, like SYT2, are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (Hilbush and Morgan, 1994 [PubMed 8058779]).[supplied by OMIM]

Catalog Number: (10254-512)

Supplier: Bioss

Description: The synaptogyrin family of proteins are integral membrane proteins containing four transmembrane regions. Synaptogyrins are tyrosine-phosphorylated proteins with two neuronal (Synaptogyrin-1 and -3) and one ubiquitous (Synaptogyrin-2) isoform. 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.

Catalog Number: (10493-696)

Supplier: Bioss

Description: The Isocitrate dehydrogenase cytoplasmic enzyme is a homodimer of 416 residues that belongs to the isocitrate and isopropylmalate dehydrogenases family. IDHC catalyzes the third step of the citric acid cycle, which involves the oxidative decarboxylation of isocitrate, forming ?ketoglutarate and CO2 in a two step reaction. The first step involves the oxidation of isocitrate to the intermediate oxalosuccinate, while the second step involves the production of ?ketoglutarate. During this process, either NADH or NADPH is produced along with CO2. Ca2+ can bind to IDHC as a complex with isocitrate, acting as a competitive inhibitor of Mg2+. The IDHC enzyme is inactivated by phosphorylation at Ser-113 and contains a clasp-like domain wherein both polypeptide chains in the dimer interlock. IDHC is expressed in a wide range of species and also in organisms that lack a complete citric acid cycle.

Catalog Number: (10493-668)

Supplier: Bioss

Description: Involvement in disease;Defects in C16orf57 are the cause of poikiloderma with neutropenia (PN). PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome.

Catalog Number: (10493-736)

Supplier: Bioss

Description: Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process (By similarity).

Catalog Number: (10493-724)

Supplier: Bioss

Description: Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process (By similarity).