MKKS, McKusick-Kaufman syndrome

MKKS, 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]

• Gene Synonyms (McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin, Bardet-Biedl syndrome 6 protein, BBS6, HMCS, KMS, MKS,)
• NCBI Gene ID: 8195
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9NPJ1
  UNIPROT ID#>>B7Z3W9
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

McKusick-Kaufman syndrome interacts with:

• Bardet-Biedl syndrome 12
  serine/threonine kinase 16
  STIP1 homology and U-box containing protein 1
  zinc finger BED-type containing 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.