Mckusick-Kaufman Syndrome (MKKS) Antibody – Rabbit Polyclonal

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]

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; striatum development; convergent extension involved in gastrulation; heart development; photoreceptor cell maintenance; sensory perception of smell; hippocampus development; pigment granule aggregation in cell center; positive regulation of multicellular organism growth; social behavior; detection of mechanical stimulus involved in sensory perception of sound; vasodilation; melanosome transport; intracellular transport; visual perception; sensory cilium biogenesis; cartilage development; brain morphogenesis; cilium biogenesis; heart looping; cerebral cortex development; negative regulation of blood pressure; chaperone-mediated protein complex assembly; determination of left/right symmetry; spermatid development; artery smooth muscle contraction

Disease: Bardet-biedl Syndrome 6; Bardet-biedl Syndrome 1; Mckusick-kaufman Syndrome