MKKS

MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDs	OMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA:MKKS - orthologs
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	136,733,309 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; caudate nucleus; ; left ventricle; ; Brodmann area 9; ; nucleus accumbens;
	Top expressed in
	dentate gyrus of hippocampal formation granule cell; ; muscle of thigh; ; morula; ; right kidney; ; blastocyst; ; proximal tubule; ; ventricular zone; ; duodenum; ; tail of embryo; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; protein binding; ATP binding; protein folding chaperone activity; unfolded protein binding;
Cellular component	cytosol; centrosome; kinociliary basal body; intracellular anatomical structure; microtubule organizing center; motile cilium; cytoskeleton; ciliary basal body; cytoplasm; nucleus; membrane; integral component of membrane;
Biological process	pigment granule aggregation in cell center; regulation of cilium beat frequency involved in ciliary motility; chaperone-mediated protein complex assembly; negative regulation of actin filament polymerization; negative regulation of appetite by leptin-mediated signaling pathway; response to stimulus; negative regulation of blood pressure; convergent extension involved in gastrulation; leptin-mediated signaling pathway; vasodilation; intracellular transport; negative regulation of gene expression; regulation of stress fiber assembly; detection of mechanical stimulus involved in sensory perception of sound; heart looping; sensory perception of smell; heart development; cartilage development; face development; determination of left/right symmetry; negative regulation of GTPase activity; protein folding; melanosome transport; spermatid development; artery smooth muscle contraction; cerebral cortex development; positive regulation of multicellular organism growth; social behavior; photoreceptor cell maintenance; response to leptin; hippocampus development; gonad development; fat cell differentiation; striatum development; visual perception; brain morphogenesis; 'de novo' protein folding; chaperone-mediated protein folding; non-motile cilium assembly; cilium assembly; developmental process;
	Sources:Amigo / QuickGO
Orthologs
	8195
	59030
	n/a
	ENSMUSG00000027274
	Q9NPJ1; Q9HB66
	Q9JI70
	NM_018848; NM_170784; NM_001394148; NM_001394149
	NM_001141946; NM_001286981; NM_001286983; NM_021527
	NP_061336; NP_740754
	NP_001135418; NP_001273910; NP_001273912; NP_067502
	Wikidata
View/Edit Human	View/Edit Mouse

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

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.