CHST6 Rabbit pAb
CHST6 Rabbit pAb
- 产品详情
- 实验流程
- 背景知识
Application
| WB |
|---|---|
| Primary Accession | Q9GZX3 |
| Reactivity | Human |
| Predicted | Dog, Horse, Sheep |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 44099 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human CHST6 |
| Epitope Specificity | 101-200/395 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBCELLULAR LOCATION | Golgi apparatus membrane. |
| DISEASE | Defects in CHST6 are the cause of macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]. An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined. Note=CHST6 homozygous missense mutations have been observed in patients with macular corneal dystrophy type I, while type II patients show a large deletion and replacement in the upstream region of CHST6. The only missense mutation for type II is Cys-50, which is heterozygous with a replacement in the upstream region on the other allele of CHST6. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010] |
| Gene ID | 4166 |
|---|---|
| Other Names | Carbohydrate sulfotransferase 6, Corneal N-acetylglucosamine-6-O-sulfotransferase, C-GlcNAc6ST, hCGn6ST, 2.8.2.21, Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta, GST4-beta, N-acetylglucosamine 6-O-sulfotransferase 5, GlcNAc6ST-5, Gn6st-5, CHST6 (HGNC:6938) |
| Dilution | WB=1:500-2000 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
For Research Use Only. Not For Use In Diagnostic Procedures.
| Name | CHST6 (HGNC:6938) |
|---|---|
| Function | Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan (PubMed:11278593, PubMed:11352640, PubMed:12218059, PubMed:17690104). Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of keratan sulfate in cornea, with an impact on proteoglycan fibril organization and corneal transparency (PubMed:11278593, PubMed:12218059, PubMed:17690104). Involved in sulfation of endothelial mucins such as GLYCAM1 (PubMed:11352640). |
| Cellular Location | Golgi apparatus membrane; Single- pass type II membrane protein |
| Tissue Location | Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea |
Research Areas
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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