MKKS blocking peptide
MKKS Antibody (C-term) Blocking Peptide
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
Molecular Function: protein binding
Biological Process: brain morphogenesis; cerebral cortex development; cilium biogenesis; convergent extension involved in gastrulation; detection of mechanical stimulus involved in sensory perception of sound; determination of left/right symmetry; fat cell differentiation; gonad development; heart development; heart looping; hippocampus development; intracellular transport; melanosome transport; photoreceptor cell maintenance; pigment granule aggregation in cell center; sensory perception of smell; social behavior; spermatid development; striatum development
Disease: Bardet-biedl Syndrome 1; Bardet-biedl Syndrome 6; Mckusick-kaufman Syndrome
Research Articles on MKKS
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Product Notes
The MKKS mkks (Catalog #AAA9221591) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "MKKS, Blocking Peptide" 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
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