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

MKKS (BBS6, McKusick-Kaufman/Bardet-Biedl Syndromes Putative Chaperonin, Bardet-Biedl Syndrome 6 Protein) (AP)

Cat. Num. AAA6385500

• Gene Names: MKKS; KMS; MKS; BBS6; HMCS
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: MKKS; Polyclonal Antibody; MKKS (BBS6; McKusick-Kaufman/Bardet-Biedl Syndromes Putative Chaperonin; Bardet-Biedl Syndrome 6 Protein) (AP); anti-MKKS antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human MKKS.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Alkaline Phosphatase (AP).

• Applicable Applications for anti-MKKS antibody: Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Full length human MKKS, aa1-570 (NP_061336.1).
• Immunogen Sequence: MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN
• Conjugate: AP
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. 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 prior to removing the cap.

Western Blot (WB)

(MKKS rabbit polyclonal antibody. Western Blot analysis of MKKS expression in A-431.)

Western Blot (WB)

(Western Blot analysis of MKKS expression in transfected 293T cell line by MKKS polyclonal antibody. Lane 1: MKKS transfected lysate (62.3kD). Lane 2: Non-transfected lysate.)

Related Product Information for anti-MKKS antibody

This gene encodes 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

NCBI and Uniprot Product Information

• NCBI GI #: 9055272
• NCBI GeneID: 8195
• NCBI Accession #: NP_061336.1
• NCBI GenBank Nucleotide #: NM_018848.2
• 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

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