Mouse Anti-MKKS Recombinant Antibody (CBYY-1130) (CBMAB-1134-YY)

MCKUSICK-KAUFMAN SYNDROME

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]

McKusick-Kaufman Syndrome; Bardet-Biedl Syndrome 6 Protein; BBS6; McKusick-Kaufman/Bardet-Biedl Syndromes Putative Chaperonin; HMCS; KMouse; MKS;

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638).

Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638).

May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (PubMed:28753627).

Artery smooth muscle contraction Source: Ensembl
Brain morphogenesis Source: BHF-UCL
Cartilage development Source: Ensembl
Cerebral cortex development Source: BHF-UCL
Chaperone-mediated protein complex assembly Source: GO_Central
Cilium assembly Source: UniProtKB
Convergent extension involved in gastrulation Source: BHF-UCL
Detection of mechanical stimulus involved in sensory perception of sound Source: BHF-UCL
Determination of left/right symmetry Source: BHF-UCL
Developmental process Source: GO_Central
Face development Source: Ensembl
Fat cell differentiation Source: BHF-UCL
Gonad development Source: ProtInc
Heart development Source: ProtInc
Heart looping Source: BHF-UCL
Hippocampus development Source: BHF-UCL
Intracellular transport Source: BHF-UCL
Melanosome transport Source: BHF-UCL
Negative regulation of actin filament polymerization Source: Ensembl
Negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
Negative regulation of blood pressure Source: Ensembl
Negative regulation of gene expression Source: Ensembl
Negative regulation of GTPase activity Source: Ensembl
Non-motile cilium assembly Source: Ensembl
Photoreceptor cell maintenance Source: BHF-UCL
Pigment granule aggregation in cell center Source: BHF-UCL
Positive regulation of multicellular organism growth Source: Ensembl
Protein folding Source: ProtInc
Regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
Regulation of stress fiber assembly Source: Ensembl
Sensory perception of smell Source: BHF-UCL
Social behavior Source: BHF-UCL
Spermatid development Source: BHF-UCL
Striatum development Source: BHF-UCL
Vasodilation Source: Ensembl
Visual perception Source: UniProtKB-KW

Nucleus
Cytoskeleton
centrosome
cytosol
Note: The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.

McKusick-Kaufman syndrome (MKKS):
Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.
Bardet-Biedl syndrome 6 (BBS6):
A syndrome 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. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.