Rabbit anti-Human MKKS Polyclonal Antibody | anti-MKKS antibody

Anti-MKKS Antibody, Rabbit Polyclonal

Cat. Num. AAA8102060

• Gene Names: MKKS; KMS; MKS; BBS6; HMCS
• Reactivity: Human
• Applications: Immunohistochemistry
• Purity: Protein A & Antigen Affinity
• Synonyms: MKKS; Polyclonal Antibody; Anti-MKKS Antibody; Rabbit Polyclonal; MKKS Antibody; Rabbit PAb; Antigen Affinity Purified; Anti-BBS6 Antibody; Anti-HMCS Antibody; Anti-KMS Antibody; Anti-MKS Antibody; anti-MKKS antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: Human MKKS
• Purity/Purification: Protein A & Antigen Affinity
• Form/Format: Liquid; PBS, pH7.0 with 0.03% Proclin300

• Applicable Applications for anti-MKKS antibody: Immunohistochemistry-Paraffin (IHC-P)
• Application Notes: IHC-P: 1:200-1:1000
• Immunogen: A synthetic peptide corresponding to the C-terminus of the Human MKKS
• Conjugation: Unconjugated
• Preparation: Produced in rabbits immunized with a synthetic peptide corresponding to the C-terminus of the Human MKKS, and purified by antigen affinity chromatography.
• Preparation and Storage: This antibody can be stored at 2-8 degree C for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20 degree C to -80 degree C. Avoid repeated freeze-thaw cycles.

Immunohistochemistry (IHC)

(Immunochemical staining of human MKKS in human brain with rabbit polyclonal antibody at 1:300 dilution, formalin-fixed paraffin embedded sections.)

Immunohistochemistry (IHC)

(Immunochemical staining of human MKKS in human colon carcinoma with rabbit polyclonal antibody at 1:300 dilution, formalin-fixed paraffin embedded sections.)

Related Product Information for anti-MKKS antibody

MKKS/BBS6, one of several proteins associated with Bardet-Biedl syndrome (BBS), is a Group II chaperonin-like protein that has evolved recently in animals from a subunit of the eukaryotic chaperonin CCT/TRiC, and diverged rapidly to acquire distinct functions. Unlike other chaperonins, cytosolic BBS6 does not oligomerize, and the majority of BBS6 resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. BBS6 is involved in everal ailments, including obesity, retinal degeneration, kidney dysfunction and congenital heart disease.

References

Scott CA, et al. (2017) Nuclear/cytoplasmic transport defects in bbs6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet 13 (7): e1006936.
Kim JC, et al. (2005) Mkks/bbs6, a divergent chaperonin-like protein linked to the obesity disorder bardet-biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci 118 (Pt 5): 1007-1020.
Alvarez-Satta M, et al. (2017) Bardet-biedl syndrome as a chaperonopathy: Dissecting the major role of chaperonin-like bbs proteins (bbs6-bbs10-bbs12). Front Mol Biosci 4 55.

NCBI and Uniprot Product Information

• NCBI GI #: 11133565
• NCBI GeneID: 8195
• UniProt Accession #: Q9NPJ1; A8K7B0; D3DW18
• Molecular Weight: 570
• NCBI Official Full Name: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
• NCBI Official Synonym Full Names: McKusick-Kaufman syndrome
• NCBI Official Symbol: MKKS
• NCBI Official Synonym Symbols: KMS; MKS; BBS6; HMCS
• NCBI Protein Information: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Bardet-Biedl syndrome 6 protein
• UniProt Protein Name: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
• Protein Family: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
• UniProt Gene Name: MKKS
• UniProt Synonym Gene Names: BBS6
• UniProt Entry Name: MKKS_HUMAN

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; sensory perception of smell; hippocampus development; 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