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MKKS GeneMcKusick-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, Feb 2023] |
mkks Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term mkks in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
MKKS Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for MKKS from the Pathway Commons Protein-Protein Interactions dataset. |
MKKS Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the MKKS gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |