MKKS

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]

Description

McKusick-Kaufman syndrome

Tissue specificity

Low tissue specificity

Subcell location

Centrosome

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

20 (10401009 - 10434222)

Ensembl ID

ENSG00000125863  (ver. 103.38)

Orthologs

Mouse Mkks: ENSMUSG00000027274

UniProt

Q9NPJ1

neXtProt

NX_Q9NPJ1

Human splice variants
Mouse splice variants

Protein structure