Western Blot (WB)
(MKKS Antibody (C-term) western blot analysis in U251 cell line lysates (35ug/lane).This demonstrates the MKKS antibody detected the MKKS protein (arrow).)
Rabbit anti-Human MKKS Polyclonal Antibody | anti-MKKS antibody
MKKS Antibody (C-term)
Western Blot (WB)
(MKKS Antibody (C-term) western blot analysis in U251 cell line lysates (35ug/lane).This demonstrates the MKKS antibody detected the MKKS protein (arrow).)
Western Blot (WB)
(MKKS Antibody (C-term) western blot analysis in U251 cell line lysates (35ug/lane).This demonstrates the MKKS antibody detected the MKKS protein (arrow).)
the chaperonin family. The encoded protein may have a role in
protein processing in limb, cardiac and reproductive system
development. Mutations in this gene have been observed in patients
with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome.
Two transcript variants encoding the same protein have been
identified for this gene.
Billingsley, G., et al. J. Med. Genet. 47(7):453-463(2010)
Corpeleijn, E., et al. Obesity (Silver Spring) 18(7):1369-1377(2010)
Mukherjee, K., et al. BMC Evol. Biol. 10, 64 (2010) :
Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
MKKS: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis. Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS). MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6). 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. Belongs to the TCP-1 chaperonin family.
Protein type: Chaperone; Cell development/differentiation
Chromosomal Location of Human Ortholog: 20p12
Cellular Component: centrosome; intracellular; cytosol
Molecular Function: protein binding; unfolded protein binding; ATP binding
Biological Process: fat cell differentiation; gonad development; protein folding; heart development; photoreceptor cell maintenance; pigment granule aggregation in cell center; positive regulation of multicellular organism growth; vasodilation; intracellular transport; visual perception; sensory cilium biogenesis; brain morphogenesis; cilium biogenesis; negative regulation of blood pressure; heart looping; chaperone-mediated protein complex assembly; artery smooth muscle contraction; striatum development; convergent extension involved in gastrulation; hippocampus development; sensory perception of smell; social behavior; detection of mechanical stimulus involved in sensory perception of sound; melanosome transport; cartilage development; cerebral cortex development; determination of left/right symmetry; spermatid development
Disease: Bardet-biedl Syndrome 6; Bardet-biedl Syndrome 1; Mckusick-kaufman Syndrome
Research Articles on MKKS
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Product Notes
The MKKS mkks (Catalog #AAA9212702) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 408-437. The MKKS Antibody (C-term) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's MKKS can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), ELISA (EIA). WB~~1:1000. Researchers should empirically determine the suitability of the MKKS mkks for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "MKKS, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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