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Fournisseur:  Bioss
Description:   The PHEX a 749 amino acid protein that putatively consists of an intracellular, transmembrane and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. The PHEX protein, which is a single-pass membrane protein, is also designated HYP, X-linked hypophosphatemia protein or metalloendopeptidase homolog PEX. PHEX plays an active role in bone and dentin mineralization and renal phosphate re-absorption. X-linked hypophosphatemic rickets, also designated HYP, is an X-linked dominant disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   The UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes are substrate-specific proteins that catalyze the transfer of GalNAc (N-acetylgalactosaminyl) to serine and threonine residues of various proteins, thereby initiating mucin-type O-linked glycosylation in the Golgi apparatus. GalNAc-T10 (Polypeptide N-acetylgalactosaminyltransferase 10), also known as UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10, is a 603 amino acid single-pass type II membrane protein that prefers Muc5Ac and EA2 peptide substrates. The N-terminal domain is involved in substrate binding and manganese coordination, while the C-terminal domain is involved in UDP-Gal binding and catalytic reaction. GalNAc-T10 is widely expressed, with highest levels found in small intestine. There are four isoforms of GalNAc-T10 that are produced as a result of alternative splicing events.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11595R)

Fournisseur:  Bioss
Description:   Three highly similar proteins termed NOMO1, NOMO2 and NOMO3, are encoded by a gene mapping to a region of duplication on the p arm of human chromosome 16. All three NOMO proteins share similar functions and have been difficult to characterize individually. NOMO1 (Nodal modulator 1), also known as PM5, is a 1,222 amino acid highly conserved single-pass type I membrane protein expressed in colon tumor tissue and normal colonic mucosa. NOMO proteins are novel antagonists of Nodal signaling which interact with Nicalin to form a Nicalin-NOMO complex, and are rapidly degraded or stabilized by Nicalin. NOMO proteins were once considered candidates for the development of pseudoxanthoma elasticum (PXE), a heritable disorder of connective tissue, as the NOMO genes are located in close proximity to the gene responsible for PXE development (MRP6).
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Synaptotagmins are a large gene family of synaptic vesicle type III integral membrane proteins that function as regulators of both exocytosis and endocytosis and are involved in neurotransmitter secretion from small secretory vesicles. Synaptotagmin XIV, also known as SytXIV, is a 555 amino acid single-pass type III membrane protein belonging to the Synaptotagmin family. With the ability to form heterodimers, Synaptotagmin XIV mainly exists as a homodimer and contains two C2 domains, an N-terminal transmembrane domain and a putative fatty-acylation site. Synaptotagmin XIV is Ca2+-independent and may function in the trafficking and exocytosis of secretory vesicles to tissues outside the brain. Disruption of Synaptotagmin XIV may be affiliated with neurodevelopmental abnormalities. Synaptotagmin XIV exists as six alternatively spliced isoforms and is encoded by a gene on human chromosome 1q32.2.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11960R-CY3)

Fournisseur:  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. SLITRK6 (SLIT and NTRK-like family, member 6) is an 841 amino acid single-pass type I membrane protein that contains 16 LRR repeats and belongs to the SLITRK family. Expressed at high levels in select brain tissue, as well as in both adult and fetal lung, SLITRK6 functions to suppress neurite outgrowth, playing a role in the regulation of neuronal function. Multiple isoforms of SLITRK6 exist due to alternative splicing events.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11595R-CY5)

Fournisseur:  Bioss
Description:   Three highly similar proteins termed NOMO1, NOMO2 and NOMO3, are encoded by a gene mapping to a region of duplication on the p arm of human chromosome 16. All three NOMO proteins share similar functions and have been difficult to characterize individually. NOMO1 (Nodal modulator 1), also known as PM5, is a 1,222 amino acid highly conserved single-pass type I membrane protein expressed in colon tumor tissue and normal colonic mucosa. NOMO proteins are novel antagonists of Nodal signaling which interact with Nicalin to form a Nicalin-NOMO complex, and are rapidly degraded or stabilized by Nicalin. NOMO proteins were once considered candidates for the development of pseudoxanthoma elasticum (PXE), a heritable disorder of connective tissue, as the NOMO genes are located in close proximity to the gene responsible for PXE development (MRP6).
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11595R-A680)

Fournisseur:  Bioss
Description:   Three highly similar proteins termed NOMO1, NOMO2 and NOMO3, are encoded by a gene mapping to a region of duplication on the p arm of human chromosome 16. All three NOMO proteins share similar functions and have been difficult to characterize individually. NOMO1 (Nodal modulator 1), also known as PM5, is a 1222 amino acid highly conserved single-pass type I membrane protein expressed in colon tumour tissue and normal colonic mucosa. NOMO proteins are novel antagonists of Nodal Signalling which interact with Nicalin to form a Nicalin-NOMO complex, and are rapidly degraded or stabilized by Nicalin. NOMO proteins were once considered candidates for the development of pseudoxanthoma elasticum (PXE), a heritable disorder of connective tissue, as the NOMO genes are located in close proximity to the gene responsible for PXE development (MRP6).
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12313R-A488)

Fournisseur:  Bioss
Description:   The PHEX a 749 amino acid protein that putatively consists of an intracellular, transmembrane and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. The PHEX protein, which is a single-pass membrane protein, is also designated HYP, X-linked hypophosphatemia protein or metalloendopeptidase homolog PEX. PHEX plays an active role in bone and dentin mineralization and renal phosphate re-absorption. X-linked hypophosphatemic rickets, also designated HYP, is an X-linked dominant disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12489R-A350)

Fournisseur:  Bioss
Description:   APLF is a 511 amino acid protein that contains one FHA doman and two C2H2type zinc fingers. Localized to both the nucleus and the cytoplasm, APLF interacts with XRCC1, XRCC4 and Ku-86 and, via these interactions, is involved in single-strand and double-strand DNA break repair. APLF is subject to post-translational phosphorylation in response to DNA breaks. The gene encoding APLF maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8% of the human genome. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   LRFN1 is a 771 amino acid single-pass type I membrane protein that belongs to the LRFN family. Containing a fibronectin type-III domain, an Ig-like (immunoglobulin-like) domain, a LRRCT domain, a LRRNT domain and seven LRR (leucine-rich) repeats, LRFN1 is thought to promote neurite outgrowth in hippocampal neurons and is involved in the regulation and maintenance of excitatory synapses. LRFN1 forms heteromeric complexes with LRFN2, LRFN3, LFRN4 and LFRN5, but does not have the ability to form homomeric complexes across cell junctions of adjacent cells like other LRFN family members. The PDZ-binding motif of LRFN1 is required for neurite outgrowth promotion and for SAP 97-, NE-dlg- and PSD-95-binding. LRFN1 is encoded by a gene located on human chromosome 19q13.2 and mouse chromosome 7 A3.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12141R-CY7)

Fournisseur:  Bioss
Description:   LRFN1 is a 771 amino acid single-pass type I membrane protein that belongs to the LRFN family. Containing a fibronectin type-III domain, an Ig-like (immunoglobulin-like) domain, a LRRCT domain, a LRRNT domain and seven LRR (leucine-rich) repeats, LRFN1 is thought to promote neurite outgrowth in hippocampal neurons and is involved in the regulation and maintenance of excitatory synapses. LRFN1 forms heteromeric complexes with LRFN2, LRFN3, LFRN4 and LFRN5, but does not have the ability to form homomeric complexes across cell junctions of adjacent cells like other LRFN family members. The PDZ-binding motif of LRFN1 is required for neurite outgrowth promotion and for SAP 97-, NE-dlg- and PSD-95-binding. LRFN1 is encoded by a gene located on human chromosome 19q13.2 and mouse chromosome 7 A3.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12141R-A555)

Fournisseur:  Bioss
Description:   LRFN1 is a 771 amino acid single-pass type I membrane protein that belongs to the LRFN family. Containing a fibronectin type-III domain, an Ig-like (immunoglobulin-like) domain, a LRRCT domain, a LRRNT domain and seven LRR (leucine-rich) repeats, LRFN1 is thought to promote neurite outgrowth in hippocampal neurons and is involved in the regulation and maintenance of excitatory synapses. LRFN1 forms heteromeric complexes with LRFN2, LRFN3, LFRN4 and LFRN5, but does not have the ability to form homomeric complexes across cell junctions of adjacent cells like other LRFN family members. The PDZ-binding motif of LRFN1 is required for neurite outgrowth promotion and for SAP 97-, NE-dlg- and PSD-95-binding. LRFN1 is encoded by a gene located on human chromosome 19q13.2 and mouse chromosome 7 A3.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9743R)

Fournisseur:  Bioss
Description:   Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKLE2 (ankyrin repeat and LEM domain containing 2), also known as LEMD7, is a 938 amino acid single-pass membrane protein containing an ANK repeat and a LEM domain. Exsiting as two isoforms produced by alternative splicing events, the gene encoding ANKLE2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12122R-CY7)

Fournisseur:  Bioss
Description:   Voltage-gated sodium channels are selective ion channels that regulate the permeability of sodium ions in excitable cells. During the propagation of an action potential, sodium channels allow an influx of sodium ions, which rapidly depolarizes the cell. Na+ CP type II beta(sodium channel, voltage-gated, type II, beta), also known as SCN2B, is a 215 amino acid single-pass type I membrane protein that plays a critical role in the expression and assembly of the heterotrimeric complex of the sodium channel and interacts with Tenascin-R to influence the clustering and regulation of sodium channels at nodes of Ranvier. Expressed specifically in brain, Na+ CP type II beta contains one Ig-like C2-type (immunoglobulin-like) domain and is encoded by a gene that maps to human chromosome 11q23.3 and mouse chromosome 9 A5.2.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12122R-CY5)

Fournisseur:  Bioss
Description:   Voltage-gated sodium channels are selective ion channels that regulate the permeability of sodium ions in excitable cells. During the propagation of an action potential, sodium channels allow an influx of sodium ions, which rapidly depolarizes the cell. Na+ CP type II beta(sodium channel, voltage-gated, type II, beta), also known as SCN2B, is a 215 amino acid single-pass type I membrane protein that plays a critical role in the expression and assembly of the heterotrimeric complex of the sodium channel and interacts with Tenascin-R to influence the clustering and regulation of sodium channels at nodes of Ranvier. Expressed specifically in brain, Na+ CP type II beta contains one Ig-like C2-type (immunoglobulin-like) domain and is encoded by a gene that maps to human chromosome 11q23.3 and mouse chromosome 9 A5.2.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9743R-CY5)

Fournisseur:  Bioss
Description:   Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKLE2 (ankyrin repeat and LEM domain containing 2), also known as LEMD7, is a 938 amino acid single-pass membrane protein containing an ANK repeat and a LEM domain. Exsiting as two isoforms produced by alternative splicing events, the gene encoding ANKLE2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.
UOM:  1 * 100 µl
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