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

MKKS, CT (MKKS, BBS6, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin, Bardet-Biedl syndrome 6 protein) (Biotin)

Cat. Num. AAA6320945

• Gene Names: MKKS; KMS; MKS; BBS6; HMCS
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: MKKS; Polyclonal Antibody; CT (MKKS; BBS6; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Bardet-Biedl syndrome 6 protein) (Biotin); Bardet-Biedl syndrome 6 protein; anti-MKKS antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-MKKS antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:100-500; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: MKKS antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 407-438 amino acids from the C-terminal region of human MKKS.
• Conjugate: Biotin
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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).)

Related Product Information for anti-MKKS antibody

MKKS is a protein with sequence similarity to 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.

Product Categories/Family for anti-MKKS antibody

Antibodies; Disease Markers

References

Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010). 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 GI #: 25914754
• NCBI GeneID: 8195
• NCBI Accession #: NP_740754.1; NP_061336.1
• NCBI GenBank Nucleotide #: NM_170784.2
• UniProt Accession #: Q9NPJ1; A8K7B0; D3DW18
• Molecular Weight: 62,342 Da
• 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