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Catalog Number: (10482-800)
Supplier: Bioss
Description: Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10480-240)
Supplier: Bioss
Description: Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10482-674)
Supplier: Bioss
Description: Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes Lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10482-676)
Supplier: Bioss
Description: Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes Lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10482-680)
Supplier: Bioss
Description: Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes Lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.


Catalog Number: (10472-784)
Supplier: Bioss
Description: MST1R/Ron, a HGF Receptor/MET-type protein kinase, mediates the biological activities of macrophage-stimulating protein (MSP), a multifunctional cytokine that regulates cell adhesion, motility, growth, and survival. The protein is a membrane-spanning, disulfide-linked heterodimer, which results from cleavage of a glycosylated precursor into 35-kD (alpha) and 150-kD (beta) subunits. Ligand binding results in tyrosine phosphorylation of the beta chain. In knockout studies, MST1R/RON (-/-) mice failed to survive past the periimplantation period. The MST1R/RON gene has been mapped to 3p21, a region of frequent deletion or mutation in small cell lung and renal carcinoma, and has been implicated in the progression of several epithelial cancers. Ron expression has been documented in many normal human tissues. ESTs have been isolated from several tissue libraries, including normal colon, mouth, prostate, and testis and cancerous colon, prostate, stomach, and uterus.


Catalog Number: (89416-204)
Supplier: Prosci
Description: ORAI1 Antibody: Antigen stimulation of immune cells triggers Ca++ entry through Ca++ release-activated Ca++ (CRAC) channels. ORAI1 is a recently identified four-transmembrane spanning protein that is an essential component of CRAC. A missense mutation in this protein in humans is the cause of one form of hereditary severe combined immune deficiency (SCID) which results in ablated T-cell Ca++ entry. It has been suggested that ORAI1 functions as a highly selective Ca++ plasma membrane channel that is gated through interactions with STIM1, the store-activated endoplasmic reticulum Ca++ sensor.


Catalog Number: (10492-976)
Supplier: Bioss
Description: ANGEL2 is a 544 amino acid protein that belongs to the CCR4/nocturin family and exists as two alternatively spliced isoforms. The CCR4 family of proteins are 3′–5′-deadenylases that function in the first step of the degradation of poly(A) mRNA. The CCR4 family most likely displays both RNA and ssDNA substrate preferences, thereby implicating a potential role in many regulatory processes. The ANGEL2 gene maps to human chromosome 1 (1q32.3), which is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. Chromosome 1 contains about 3,000 genes, and considering the great number of genes there are also a large number of diseases associated with it. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons disease, Gaucher disease and Usher syndrome are also associated with chromosome 1.


Catalog Number: (89417-190)
Supplier: Prosci
Description: GOLPH2 Antibody: GOLPH2, also known as GOLM1, is a Golgi phosphoprotein that has a short cytoplasmic N-terminal domain, a membrane spanning region, and a longer C-terminal domain. It was initially identified as a possible marker for Alzheimer's disease, although later studies have demonstrated that the GOLPH2 gene does not contribute to risk of this disease. GOLPH2 expression has been reported higher in prostate cancer tissues compared to normal prostate tissue, suggesting that GOLPH2 can be used as an additional positive marker for tissue-based diagnosis of prostate cancer. It has been suggested that GOLPH2 expression in hepatocellular carcinomas (HCCs) and serum may also serve as tumor markers for HCCs.


Catalog Number: (10494-166)
Supplier: Bioss
Description: DENND2C is a 928 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as three isoforms as a result of alternative splicing. The DENND2C protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2C maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome.


Supplier: Biotium
Description: This antibody reacts with Ig domain of CD47 protein. It has been shown to inhibit polymorphonuclear neutrophil (PMN) transmigration across cell monolayers and matrix. CD47, originally named integrin-associated protein (IAP), is a 50 kDa protein containing five membrane-spanning sequences and a short cytoplasmic tail. CD47 plays a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. It is important in memory formation and synaptic plasticity in the hippocampus. CD47 may play a role in membrane transport and/or integrin dependent signal transduction.

Catalog Number: (10414-296)
Supplier: Bioss
Description: PMVK is a 192 amino acid peroxisomal enzyme belonging to the nucleoside monophosphate (NMP) kinase family and is expressed in heart, liver, skeletal muscle, kidney, and pancreas with lower expression in brain, placenta and lung. Induced by sterol, PMVK participates in isopentenyl diphosphate biosynthesis via the mevalonate pathway. PMVK catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate in the fifth reaction of the cholesterol biosynthetic pathway. PMVK exists as a monomer and is encoded by a gene located on human chromosome 1, which houses over 3,000 genes and is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.


Catalog Number: (76110-156)
Supplier: Bioss
Description: Repetin is a 784 amino acid secreted protein that belongs to the S100-fused protein family. Repetin is an extracellular epidermal matrix protein that is expressed in the epidermis and at high levels in eccrine sweat glands, the inner sheaths of hair roots and the filiform papilli of the tongue. A multifunctional epidermal matrix protein, repetin is involved in the cornified cell envelope formation. Containing two EF-hand domains, repetin?s recombinant N-terminal domain binds calcium reversibly. Repetin and trichohyalin may compensate for absent loricrin. The repetin gene contains three exons, two introns and spans at least 5.6 kb. The repetin gene is conserved in cow, mouse and rat, and maps to human chromosome 1q21.3.


Catalog Number: (10446-798)
Supplier: Bioss
Description: CatSpers (cation channel, sperm associated proteins) are ion transport proteins located on the surface of sperm cells in the principal piece of the sperm tail. CatSpers are vital to sperm motility, fertilization and cAMP-mediated calcium influx in sperm. There are four CatSper proteins in mammalian sperm, namely CatSper (or CatSper1), CatSper2, CatSper3 and CatSper4. CatSper proteins contain a single, six-transmembrane-spanning segment and exhibit the voltage-dependent Ca2+ channel four-repeat structure. CatSper proteins are believed to assemble into a heterotetrameric complex, forming an alkalinization-activated Ca2+-selective channel. Mutations in any of the genes encoding CatSper family proteins can result in male infertility. CatSper3 plays an important role in the hyperactivated motility of sperm cells, a process that is required in the preparation of sperm for fertilization.


Catalog Number: (10446-780)
Supplier: Bioss
Description: CatSpers (cation channel, sperm associated proteins) are ion transport proteins located on the surface of sperm cells in the principal piece of the sperm tail. CatSpers are vital to sperm motility, fertilization and cAMP-mediated calcium influx in sperm. There are four CatSper proteins in mammalian sperm, namely CatSper (or CatSper1), CatSper2, CatSper3 and CatSper4. CatSper proteins contain a single, six-transmembrane-spanning segment and exhibit the voltage-dependent Ca2+ channel four-repeat structure. CatSper proteins are believed to assemble into a heterotetrameric complex, forming an alkalinization-activated Ca2+-selective channel. Mutations in any of the genes encoding CatSper family proteins can result in male infertility. CatSper3 plays an important role in the hyperactivated motility of sperm cells, a process that is required in the preparation of sperm for fertilization.


Catalog Number: (10751-106)
Supplier: Prosci
Description: ATG9A Antibody: Autophagy, the process of bulk degradation of cellular proteins through an autophagosomic-lysosomal pathway is important for normal growth control and may be defective in tumor cells. It is involved in the preservation of cellular nutrients under starvation conditions as well as the normal turnover of cytosolic components. This process is negatively regulated by TOR (Target of rapamycin) through phosphorylation of autophagy protein APG1. ATG9A, a multi-spanning membrane protein localizing to the Golgi apparatus and late endosomes, has been proposed to mediate membrane transport to generate autophagosomes. ATG9A has also been implicated as a regulator of STING (stimulator of interferon genes)-mediated innate immune response.


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