MKKS rabbit pAb
Ucallm_WP3591-50
Price range: $268.00 through $328.00
Product details
Background:
This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013],
Specifications
| Size | 50μL/100μL |
| Target | MKKS |
| Reactivity | Human, Mouse |
| Applications | WB |
| MW(Calculated) | |
| MW(Observed) | 65kD |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-2000 |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | Synthesized peptide derived from human MKKS AA range: 166-216 |
| Specificity | This antibody detects endogenous levels of MKKS at Human/Mouse |
| Gene Name | MKKS BBS6 |
| Protein Name | MKKS |
| Other Name | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; / Bardet-Biedl syndrome 6 protein |
| Species | Human |
| Gene ID | 8195 |
| Uniprot | Q9NPJ1, |
| Species.1 | Mouse |
| Gene ID.1 | 59030 |
| Uniprot.1 | Q9JI70 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol . Nucleus . The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome. |
| Tissue Expression | Widely expressed in adult and fetal tissues. |
| Signaling_pathway | |
| Research Areas | |
| Function | Disease:Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.,Disease:Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS) [MIM:236700]. MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.,Function:May play a role in protein processing in limb, cardiac and reproductive system development.,online information:Retina International's Scientific Newsletter,similarity:Belongs to the TCP-1 chaperonin family.,tissue specificity:Widely expressed in adult and fetal tissues., |
Please login to post questions
Related products
