Aliases for MKKS Gene
External Ids for MKKS Gene
Previous HGNC Symbols for MKKS Gene
Previous GeneCards Identifiers for MKKS Gene
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]
GeneCards Summary for MKKS Gene
MKKS (McKusick-Kaufman Syndrome) is a Protein Coding gene. Diseases associated with MKKS include Mckusick-Kaufman Syndrome and Bardet-Biedl Syndrome 6. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include unfolded protein binding and RNA polymerase II repressing transcription factor binding.
UniProtKB/Swiss-Prot for MKKS Gene
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.