|Homo sapiens Gene: MKKS|
|Last Modified||2014-10-13 [Report errors or provide feedback]|
|Gene Name||McKusick-Kaufman syndrome|
|Synonyms||BBS6; HMCS; KMS; MKS;|
|Useful resources||Stemformatics EHFPI ImmGen|
This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
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]
|Genomic Location||Chromosome 20:10401009-10434222|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Possible paralog/unusual divergence/ gene prediction error
|UniProt Splice Variant|
|EMBL||AF275813 AL034430 CH471133 HF548059|
|GenPept||AAG23823 CCO13770 EAX10343|
|RNA Seq Atlas||8195|