MKKS

Also known as BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

Gene data

MKKS

Name: MKKS centrosomal shuttling protein
Type: protein-coding
Position: 10,401,009–10,434,222 (−)
Aliases: BBS6, HMCS, KMS, MKS
Ensembl: ENSG00000125863
RefSeq RNA: NM_018848.3, NM_170784.3, NR_072977.2
RefSeq protein: NP_061336.1, NP_740754.1

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].

Gene Ontology

Biological process

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Article

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McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 6 and McKusick–Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene.