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McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

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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.

Below are the list of possible McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin ELISA Kit
 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Recombinant
 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Antibody
Also known as McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (Bardet-Biedl syndrome 6 protein).
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
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, 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: Cell development/differentiation; Chaperone

Chromosomal Location of Human Ortholog: 20p12

Cellular Component: centrosome; intracellular

Molecular Function: protein binding; unfolded protein binding

Biological Process: 'de novo' protein folding; brain morphogenesis; cerebral cortex development; 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; protein folding; sensory perception of smell; social behavior; spermatid development; striatum development

Disease: Bardet-biedl Syndrome 1; Bardet-biedl Syndrome 6; Mckusick-kaufman Syndrome
 MKKS ELISA Kit
 MKKS Recombinant
 MKKS Antibody
 BBS6 ELISA Kit
 BBS6 Recombinant
 BBS6 Antibody
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